XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Gastroesophageal reflux

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA316p13.3100%gene with protein product601615ABC3Alveolar proteinosis; Apnea; Autosomal recessive inheritance; Bronchiectasis; Clubbing of fingers; Congenital onset; Cough; Desquamative interstitial pneumonitis; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Heterogeneous; Honeycomb lung; Pulmonary fibrosis; Rales; Respiratory distress; Respiratory failure; Reticular pattern on pulmonary HRCT; Tachypnea
ADAMTS25q35.3100%gene with protein product604539Abnormality of primary molar morphology; Abnormality of subcutaneous fat tissue; Aphasia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Blepharochalasis; Blue sclerae; Bruising susceptibility; Coxa valga; Coxa vara; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Esophagitis; Everted lower lip vermilion; Excessive wrinkled skin; Femoral hernia; Fragile skin; Frontal open bite; Gastroesophageal reflux; Gingival bleeding; Gingival hyperkeratosis; Gingival overgrowth; Hiatus hernia; Hip dislocation; Hip dysplasia; Hirsutism; Hyperextensible skin; Hypodontia; Inguinal hernia; Joint hyperflexibility; Joint laxity; Joint stiffness; Micrognathia; Micromelia; Motor delay; Muscular hypotonia; Mutism; Myopia; Osteomalacia; Osteopenia; Osteoporosis; Premature birth; Premature rupture of membranes; Prolonged bleeding time; Recurrent mandibular subluxations; Redundant skin; Retrognathia; Rickets; Scarring; Scoliosis; Severe short stature; Short phalanx of finger; Short stature; Short toe; Soft, doughy skin; Spontaneous neonatal pneumothorax; Thick vermilion border; Thin skin; Umbilical hernia; Wide anterior fontanel
AFF45q31.1100%gene with protein product604417Abnormal cardiac septum morphology; Aspiration pneumonia; Autosomal dominant inheritance; Brachydactyly; Chronic lung disease; Coarse facial features; Congenital onset; Cryptorchidism; Downturned corners of mouth; Gastroesophageal reflux; Global developmental delay; Hypertelorism; Intellectual disability; Laryngomalacia; Long eyelashes; Obesity; Patent ductus arteriosus; Proptosis; Round face; Short nose; Short stature; Thick eyebrow; Thick hair; Tracheal stenosis; Vesicoureteral refluxObesity
ALDH18A110q24.1100%gene with protein product138250GSAS, PYCS, SPG9Abnormal facial shape; Abnormal upper motor neuron morphology; Abnormality of pelvic girdle bone morphology; Adducted thumb; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bowel diverticulosis; Brachycephaly; Brisk reflexes; Broad forehead; Carpal bone hypoplasia; Cataract; Congenital cataract; Congenital hip dislocation; Corneal arcus; Corneal opacity; Cutis laxa; Delayed cranial suture closure; Delayed skeletal maturation; Dysarthria; Dysfunction of lateral corticospinal tracts; Failure to thrive; Feeding difficulties; Frontal bossing; Full cheeks; Gait disturbance; Gastroesophageal reflux; Generalized amyotrophy; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hernia; Hiatus hernia; Hip dislocation; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypotelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Microcephaly; Motor polyneuropathy; Myopia; Narrow mouth; Narrow nasal ridge; Pectus excavatum; Pes cavus; Premature skin wrinkling; Progressive; Prominent forehead; Prominent superficial blood vessels; Protruding ear; Redundant skin; Scoliosis; Seizures; Severe short stature; Short stature; Skeletal muscle atrophy; Slow progression; Sparse hair; Spastic paraplegia; Specific learning disability; Sporadic; Strabismus; Talipes equinovarus; Thin skin; Triangular face; Umbilical hernia; Urinary retention; Vomiting; Wide cranial sutures; Wormian bones
AMER1Xq11.2100%gene with protein product300647FAM123BAbnormality of the metaphysis; Apnea; Arachnodactyly; Atrial septal defect; Bifid uvula; Broad ribs; Camptodactyly; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Craniofacial osteosclerosis; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Epicanthus; Facial hyperostosis; Facial palsy; Failure to thrive; Fibular aplasia; Fibular hypoplasia; Flat occiput; Flexion contracture of toe; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; High iliac wings; High, narrow palate; Hydrocephalus; Hypertelorism; Intellectual disability, mild; Intestinal malrotation; Joint contracture of the hand; Large fontanelles; Large iliac wings; Laryngeal web; Low-set ears; Macrocephaly; Micrognathia; Microtia; Narrow forehead; Nasal speech; Natal tooth; Oligohydramnios; Osteopathia striata; Osteopetrosis; Overfolded helix; Paranasal sinus hypoplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pectus excavatum; Pierre-Robin sequence; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Rough bone trabeculation; Sclerosis of skull base; Scoliosis; Seizures; Short stature; Spina bifida occulta; Straight clavicles; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened calvaria; Thoracolumbar kyphosis; Tracheomalacia; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide nasal bridge; X-linked dominant inheritance
ARNT215q25.199.99%gene with protein product606036Agenesis of corpus callosum; Anterior pituitary hypoplasia; Autosomal recessive inheritance; Cleft palate; Cryptorchidism; Deeply set eye; Delayed myelination; Diabetes insipidus; Gastroesophageal reflux; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hip dislocation; Hydronephrosis; Hypernatremia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Microcephaly; Neurogenic bladder; Nystagmus; Pituitary hypothyroidism; Postnatal microcephaly; Prominent forehead; Retrognathia; Seizures; Septo-optic dysplasia; Short stature; Spasticity; Strabismus; Vesicoureteral reflux; Visual impairment
ASCL112q23.2100%gene with protein product100790Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the mouth; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Breathing dysregulation; Central hypoventilation; Central sleep apnea; Constipation; Death in infancy; Downslanted palpebral fissures; Dysautonomia; Failure to thrive; Feeding difficulties; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Hyperhidrosis; Intellectual disability; Low-set ears; Muscular hypotonia; Posteriorly rotated ears; Seizures; Small for gestational age; Strabismus
ASPA17p13.2100%gene with protein product608034Abnormality of visual evoked potentials; Aplasia/Hypoplasia involving the central nervous system; Autosomal recessive inheritance; Blindness; Brain atrophy; CNS demyelination; Coma; Delayed closure of the anterior fontanelle; Delayed speech and language development; Developmental regression; Dysphagia; EEG abnormality; Gastroesophageal reflux; Generalized seizures; Global developmental delay; Hearing impairment; Intellectual disability; Lethargy; Macrocephaly; Mild global developmental delay; Muscular hypotonia; Nystagmus; Opisthotonus; Optic atrophy; Seizures; Sleep disturbance; Spasticity; Visual loss
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
ATP11A13q34100%gene with protein product605868Bronchiectasis; Clubbing of fingers; Cough; Exertional dyspnea; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CCR66q27100%gene with protein product601835STRL22Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CCR66q27100%gene with protein product601835STRL22Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CDC617q21.299.92%gene with protein product602627CDC18LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High, narrow palate; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Irregular femoral epiphysis; Joint hyperflexibility; Long philtrum; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Mild global developmental delay; Motor delay; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent metopic ridge; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Small earlobe; Triangular faceHeterotaxy
CDKL5Xp22.1396.91%gene with protein product300203STK9Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Broad forehead; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Developmental regression; EEG abnormality; Epileptic encephalopathy; Fine hair; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hyperventilation; Hypsarrhythmia; Inability to walk; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, profound; Long philtrum; Microcephaly; Multifocal seizures; Myoclonus; Nephrolithiasis; Poor eye contact; Progressive microcephaly; Prominent forehead; Scoliosis; Seizures; Short foot; Short palm; Small hand; Spasticity; Stereotypy; Tapered finger; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance
CDKL5Xp22.1396.91%gene with protein product300203STK9Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Broad forehead; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Developmental regression; EEG abnormality; Epileptic encephalopathy; Fine hair; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hyperventilation; Hypsarrhythmia; Inability to walk; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, profound; Long philtrum; Microcephaly; Multifocal seizures; Myoclonus; Nephrolithiasis; Poor eye contact; Progressive microcephaly; Prominent forehead; Scoliosis; Seizures; Short foot; Short palm; Small hand; Spasticity; Stereotypy; Tapered finger; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance
CHAMP113q34100%gene with protein product616327C13orf8, ZNF828Autosomal dominant inheritance; Congenital onset; Epicanthus; Everted lower lip vermilion; Facial hypotonia; Feeding difficulties; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hypermetropia; Impaired pain sensation; Intellectual disability; Joint hypermobility; Long face; Low-set ears; Microcephaly; Open mouth; Pointed chin; Recurrent respiratory infections; Short philtrum; Stereotypy; Strabismus; Tented upper lip vermilion; Upslanted palpebral fissure
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
COL13A110q22.199.62%gene with protein product120350Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Exercise intolerance; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; High palate; Low-set ears; Micrognathia; Pectus carinatum; Poor head control; Ptosis; Recurrent lower respiratory tract infections; Respiratory insufficiency; Retrognathia
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A27q21.399.62%gene with protein product120160OI4Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic regurgitation; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calcaneovalgus deformity; Congenital bilateral hip dislocation; Congestive heart failure; Convex nasal ridge; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Excessive wrinkled skin; Femoral bowing present at birth, straightening with time; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Hearing impairment; Hernia; Hyperextensible skin; Increased susceptibility to fractures; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphosis; Large fontanelles; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral regurgitation; Mitral valve prolapse; Multiple prenatal fractures; Muscle weakness; Neonatal short-limb short stature; Nonimmune hydrops fetalis; Osteopenia; Otosclerosis; Pectus excavatum; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Slender long bone; Small for gestational age; Soft skin; Subcutaneous hemorrhage; Thin skin; Tibial bowing; Triangular face; Wide anterior fontanel; Wormian bones
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A22q32.299.87%gene with protein product120190Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Cigarette-paper scars; Congenital diaphragmatic hernia; Ectopia lentis; Epicanthus; Femoral hernia; Fragile skin; Gastroesophageal reflux; Genu recurvatum; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Pes planus; Poor wound healing; Premature birth following premature rupture of fetal membranes; Scoliosis; Short stature; Soft skin; Subcutaneous spheroids; Thin skin; Umbilical hernia; Varicose veins
COL5A22q32.299.87%gene with protein product120190Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Cigarette-paper scars; Congenital diaphragmatic hernia; Ectopia lentis; Epicanthus; Femoral hernia; Fragile skin; Gastroesophageal reflux; Genu recurvatum; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Pes planus; Poor wound healing; Premature birth following premature rupture of fetal membranes; Scoliosis; Short stature; Soft skin; Subcutaneous spheroids; Thin skin; Umbilical hernia; Varicose veins
CPLX14p16.3100%gene with protein product605032Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aggressive behavior; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Developmental regression; Downturned corners of mouth; Ectopia pupillae; EEG with irregular generalized spike and wave complexes; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, mild; Intellectual disability, severe; Intrauterine growth retardation; Irritability; Kyphosis; Low posterior hairline; Malrotation of small bowel; Mental deterioration; Metatarsus adductus; Microcephaly; Micrognathia; Myoclonus; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
CTBP14p16.398.92%gene with protein product602618Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, severe; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
CTGF6q23.2100%gene with protein product121009Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CTGF6q23.2100%gene with protein product121009Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
DDC7p12.2-p12.199.99%gene with protein product107930Autosomal recessive inheritance; Babinski sign; Choreoathetosis; Constipation; Decreased CSF homovanillic acid; Diarrhea; Emotional lability; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Hyperhidrosis; Hyperreflexia; Hypotension; Infantile onset; Intermittent hypothermia; Irritability; Limb dystonia; Limb hypertonia; Miosis; Muscular hypotonia of the trunk; Myoclonus; Nasal obstruction; Ptosis; Sleep disturbance; Temperature instability
DDOST1p36.12100%gene with protein product602202Abnormality of the coagulation cascade; Accelerated skeletal maturation; Autosomal recessive inheritance; CNS hypomyelination; Constipation; Decreased liver function; Elevated hepatic transaminases; Esotropia; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Infantile onset; Neurodevelopmental delay; Neurological speech impairment; Oromotor apraxia; Osteopenia; Recurrent ear infections; Seizures; Short stature; Strabismus; Tremor; Type I transferrin isoform profile
DDOST1p36.12100%gene with protein product602202Abnormality of the coagulation cascade; Accelerated skeletal maturation; Autosomal recessive inheritance; CNS hypomyelination; Constipation; Decreased liver function; Elevated hepatic transaminases; Esotropia; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Infantile onset; Neurodevelopmental delay; Neurological speech impairment; Oromotor apraxia; Osteopenia; Recurrent ear infections; Seizures; Short stature; Strabismus; Tremor; Type I transferrin isoform profile
DEAF111p15.5100%gene with protein product602635Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Absent speech; Aggressive behavior; Agitation; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Dyskinesia; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Horizontal eyebrow; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Infantile onset; Intellectual disability; Involuntary movements; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Poor eye contact; Recurrent infections; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Status epilepticus; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Thick lower lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DPP919p13.3100%gene with protein product608258Bronchiectasis; Clubbing of fingers; Cough; Exertional dyspnea; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT
DSP6p24.3100%gene with protein product125647Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the nail; Acantholysis; Alopecia; Alopecia universalis; Anonychia; Aplasia cutis congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Clubbing of fingers; Congenital bullous ichthyosiform erythroderma; Congestive heart failure; Cough; Dilated cardiomyopathy; Exertional dyspnea; Failure to thrive; Fragile skin; Gastroesophageal reflux; Gingival recession; Ground-glass opacification on pulmonary HRCT; Heterogeneous; Honeycomb lung; Mitten deformity; Nail dysplasia; Nail dystrophy; Natal tooth; Neonatal death; Oral mucosal blisters; Palmoplantar keratoderma; Palmoplantar keratosis with erythema and scale; Parakeratosis; Patchy palmoplantar keratoderma; Phimosis; Pulmonary fibrosis; Rales; Reduced number of teeth; Reticular pattern on pulmonary HRCT; Right ventricular cardiomyopathy; Sandal gap; Skin erosion; Sparse and thin eyebrow; Sparse eyelashes; Sudden cardiac death; Tapered distal phalanges of finger; Ventricular extrasystoles; Ventricular fibrillation; Ventricular tachycardia; Widely spaced toes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
ELP19q31.399.97%gene with protein product603722DYS, IKBKAPAbnormal pupil morphology; Abnormal renal physiology; Acrocyanosis; Alacrima; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Congenital onset; Constipation; Corneal erosion; Corneal ulceration; Decreased corneal reflex; Decreased number of large peripheral myelinated nerve fibers; Decreased sensitivity to hypoxemia; Decreased taste sensation; Diarrhea; Elevated serum creatinine; EMG abnormality; Emotional lability; Episodic fever; Episodic hyperhidrosis; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Glomerulosclerosis; Growth delay; Hyperhidrosis; Hypertension; Hypohidrosis; Hyporeflexia; Impaired pain sensation; Incoordination; Increased blood urea nitrogen; Malignant hyperthermia; Muscular hypotonia; Neuropathic arthropathy; Orthostatic hypotension; Progressive; Recurrent corneal erosions; Recurrent infections due to aspiration; Recurrent respiratory infections; Scoliosis; Tachycardia; Vomiting
EXT211p11.2100%gene with protein product608210Abnormality of femur morphology; Abnormality of the dentition; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of tibia morphology; Anteverted nares; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brachycephaly; Broad nasal tip; Cervical myelopathy; Chondrosarcoma; Coarse facial features; Constipation; Coxa vara; Cranial nerve paralysis; Cryptorchidism; Decreased skull ossification; Depressed nasal tip; Downturned corners of mouth; Epicanthus; Exostoses; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Global developmental delay; Hypertelorism; Hypoplasia of the ulna; Infantile onset; Juvenile onset; Macrocephaly; Madelung deformity; Madelung-like forearm deformities; Micrognathia; Micromelia; Micropenis; Multiple exostoses; Muscle weakness; Nystagmus; Overlapping toe; Parietal foramina; Pelvic bone exostoses; Peripheral nerve compression; Poor speech; Prominent nasal bridge; Protuberances at ends of long bones; Radial bowing; Rib exostoses; Scapular exostoses; Scoliosis; Seizures; Short metacarpal; Short philtrum; Short stature; Strabismus; Underdeveloped nasal alae; Ventricular septal defect
FAM13A4q22.199.97%gene with protein product613299FAM13A1Bronchiectasis; Clubbing of fingers; Cough; Exertional dyspnea; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT
FBXL46q16.1-q16.2100%gene with protein product605654Autosomal recessive inheritance; Cerebral atrophy; Concave nasal ridge; Delayed myelination; Downslanted palpebral fissures; Dysphagia; Encephalopathy; Epicanthus; Everted lower lip vermilion; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Growth delay; Hyperalaninemia; Hypoplasia of the corpus callosum; Hypospadias; Increased serum lactate; Lactic acidosis; Leukodystrophy; Microcephaly; Mitochondrial respiratory chain defects; Narrow face; Phenotypic variability; Protruding ear; Seizures; Skeletal muscle atrophy; Small for gestational age; Thick eyebrow
FGFRL14p16.399.98%gene with protein product605830Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, severe; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
FLCN17p11.2100%gene with protein product607273Abnormal renal morphology; Abnormality of abdomen morphology; Abnormality of retinal pigmentation; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the pleura; Autism; Autosomal dominant inheritance; Broad forehead; Delayed myelination; Dental crowding; Dental malocclusion; Downslanted palpebral fissures; Dysphasia; Echolalia; EEG abnormality; Emphysema; Expressive language delay; Failure to thrive; Feeding difficulties in infancy; Fibrofolliculoma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; High palate; Hyperactivity; Hypermetropia; Hypertelorism; Hypocholesterolemia; Hypoplasia of the corpus callosum; Incomplete penetrance; Intellectual disability, mild; Language impairment; Mandibular prognathia; Microcephaly; Micrognathia; Multiple lipomas; Neoplasm of the stomach; Oral-pharyngeal dysphagia; Papule; Patent foramen ovale; Phenotypic variability; Pneumothorax; Poor eye contact; Prominent nasal tip; Pulmonary sequestration; Receptive language delay; Renal cell carcinoma; Renal cyst; Scoliosis; Seizures; Short stature; Skin tags; Sleep apnea; Small for gestational age; Smooth philtrum; Spontaneous pneumothorax; Sporadic; Stereotypy; Transitional cell carcinoma of the bladder; Triangular face; Trigonocephaly; Uterine leiomyosarcoma; Wide mouth
FLII17p11.299.92%gene with protein product600362Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hoarse voice; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
GABBR29q22.3399.87%gene with protein product607340GPR51Abnormality of movement; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Aplasia/Hypoplasia of the cerebellum; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Developmental regression; EEG abnormality; Fine hair; Gastroesophageal reflux; Hearing impairment; Intellectual disability; Long philtrum; Microcephaly; Nephrolithiasis; Seizures; Spasticity; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
GABRD1p36.3399.97%gene with protein product137163Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
GLRA15q33.1100%gene with protein product138491STHEApnea; Aspiration; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Frequent falls; Gait disturbance; Gastroesophageal reflux; Hiatus hernia; Hip dislocation; Hyperreflexia; Hypertonia; Hypokinesia; Infantile onset; Inguinal hernia; Joint stiffness; Muscle stiffness; Myoclonus; Rigidity; Seizures; Sleep disturbance; Spasticity; Umbilical hernia
GLRB4q32.198.09%gene with protein product138492Ataxia; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Gait disturbance; Gastroesophageal reflux; Hiatus hernia; Hyperreflexia; Hypertonia; Joint stiffness; Muscle stiffness; Myoclonus; Rigidity; Sleep disturbance; Spasticity; Umbilical hernia
GPHN14q23.399.96%gene with protein product603930Apnea; Aspiration; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Feeding difficulties; Frequent falls; Gait disturbance; Gastroesophageal reflux; Generalized tonic-clonic seizures; Hiatus hernia; Hip dislocation; Hyperreflexia; Hypertonia; Hypokinesia; Infantile onset; Inguinal hernia; Joint stiffness; Molybdenum cofactor deficiency; Muscle stiffness; Muscular hypotonia of the trunk; Myoclonus; Polymicrogyria; Poor eye contact; Poor head control; Rigidity; Seizures; Sleep disturbance; Spasticity; Spontaneous abortion; Umbilical hernia
HDAC8Xq13.199.94%gene with protein product300269HDACL1, WTS, MRXS6Abnormal facial shape; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Broad nasal tip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Emotional lability; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; Gynecomastia; High palate; Highly arched eyebrow; Hypertonia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Malar prominence; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Pes cavus; Pes planus; Phthisis bulbi; Poor speech; Premature birth; Prominent supraorbital ridges; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Truncal obesity; Vesicoureteral reflux; Widely spaced teethObesity
HIVEP26q24.2100%gene with protein product143054Abnormal facial shape; Anxiety; Autistic behavior; Autosomal dominant inheritance; Constipation; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hyperactivity; Impulsivity; Infantile onset; Intellectual disability; Narrow mouth; Prominent nasal bridge; Tapered finger; Wide nasal bridge
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HRAS11p15.5100%gene with protein product190020HRAS1Abnormal dermatoglyphics; Abnormality of dental color; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of finger; Abnormality of the fingernails; Abnormality of toe; Abnormality of vision; Acanthosis nigricans; Achilles tendon contracture; Adenoma sebaceum; Alopecia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Arnold-Chiari type I malformation; Arrhythmia; Asymmetric growth; Atrial septal defect; Autosomal dominant inheritance; Barrel-shaped chest; Basal cell carcinoma; Biparietal narrowing; Bladder carcinoma; Bronchomalacia; Cavernous hemangioma; Cerebral atrophy; Cerebral cortical atrophy; Coarctation of aorta; Coarse facial features; Coloboma; Concave nail; Cranial asymmetry; Cryptorchidism; Curly hair; Deep palmar crease; Deep plantar creases; Deep-set nails; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Enlarged cerebellum; Epicanthus; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fragile nails; Frontal bossing; Full cheeks; Gastroesophageal reflux; Genu recurvatum; Global developmental delay; Hemangioma; Hemimegalencephaly; High palate; Hoarse voice; Horseshoe kidney; Hydrocephalus; Hyperextensibility of the finger joints; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypertelorism; Hypertrophic cardiomyopathy; Hypoglycemia; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplastic toenails; Ichthyosis; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Keratoconus; Kyphoscoliosis; Lack of skin elasticity; Limited elbow movement; Low-set ears; Macrocephaly; Macroglossia; Melanocytic nevus; Micrognathia; Microphthalmia; Mitral valve prolapse; Muscular hypotonia; Narrow palate; Nevus; Nevus sebaceous; Obstructive sleep apnea; Osteopenia; Overgrowth; Papilloma; Pectus carinatum; Plagiocephaly; Pneumothorax; Pointed chin; Polyhydramnios; Poor suck; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Ptosis; Pulmonic stenosis; Pyloric stenosis; Recurrent fractures; Reduced tendon reflexes; Redundant neck skin; Redundant skin; Respiratory failure; Rhabdomyosarcoma; Seizures; Short neck; Short stature; Somatic mosaicism; Sparse hair; Sporadic; Strabismus; Sudden death; Talipes equinovarus; Telecanthus; Thick lower lip vermilion; Thickened Achilles tendon; Thickened nuchal skin fold; Thin nail; Tracheomalacia; Ulnar deviation of finger; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Vestibular Schwannoma; Webbed neck; Wide anterior fontanel; Woolly hair
IQSEC2Xp11.2297.85%gene with protein product300522MRX1, MRX78, MRX18Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; EEG abnormality; EEG with centrotemporal focal spike waves; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Hyperacusis; Hypercholesterolemia; Hypermetropia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Nasal speech; Neurological speech impairment; Obesity; Open mouth; Pes cavus; Pes planus; Poor speech; Precocious puberty; Scoliosis; Seizures; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; X-linked dominant inheritance; X-linked recessive inheritance
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
KCNAB21p36.31100%gene with protein product601142Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
KIAA0319L1p34.3100%gene with protein product613535Autoimmunity; Dysphagia; Gastroesophageal reflux; Hypopigmented skin patches; Mucosal telangiectasiae; Narrow foramen obturatorium; Nausea and vomiting; Skin ulcer; Telangiectasia of the skin
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
KLHL77p15.3100%gene with protein product611119Abnormal anterior chamber morphology; Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Abnormality of retinal pigmentation; Abnormality of the pancreas; Abnormality of the retinal vasculature; Abnormality of the testis; Accessory oral frenulum; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Biparietal narrowing; Blindness; Camptodactyly of finger; Cataract; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Conductive hearing impairment; Convex nasal ridge; Death in infancy; Elbow dislocation; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertelorism; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Keratoconus; Limitation of joint mobility; Low anterior hairline; Low-set ears; Microcephaly; Narrow chest; Nevus flammeus of the forehead; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pallor; Photophobia; Platyspondyly; Progressive night blindness; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Short thorax; Strabismus; Supernumerary nipple; Synophrys; Thick hair; Trigonocephaly; Ulnar deviation of finger; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide intermamillary distance; Wide nasal bridge
KMT2A11q23.399.96%gene with protein product159555MLLAbnormally low-pitched voice; Aggressive behavior; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Blepharophimosis; Brachycephaly; Broad-based gait; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Flat face; Gastroesophageal reflux; Generalized hirsutism; Generalized hypotonia; High palate; Highly arched eyebrow; Hypertelorism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short middle phalanx of finger; Short neck; Short nose; Short stature; Short toe; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nose; Widely spaced teeth
LAMA26q22.33100%gene with protein product156225LAMMAbnormal brainstem MRI signal intensity; Abnormal cortical gyration; Abnormality of the temporomandibular joint; Areflexia; Aspiration; Astrocytosis; Autosomal recessive inheritance; Cerebral edema; Chewing difficulties; Congenital muscular dystrophy; Congenital onset; Elevated serum creatine phosphokinase; Facial palsy; Feeding difficulties in infancy; Flexion contracture; Gastroesophageal reflux; Generalized hypotonia; Highly elevated creatine phosphokinase; Hypointensity of cerebral white matter on MRI; Hypokinesia; Inability to walk; Increased connective tissue; Intellectual disability; Kyphoscoliosis; Macroglossia; Motor delay; Muscle fiber atrophy; Muscular dystrophy; Myositis; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Weak cryRhabdomyolysis
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LETM14p16.3100%gene with protein product604407Abnormal form of the vertebral bodies; Abnormal heart valve morphology; Abnormal sternal ossification; Abnormality of the kidney; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aplasia cutis congenita of scalp; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Calvarial skull defect; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Congenital diaphragmatic hernia; Convex nasal ridge; Craniofacial asymmetry; Cryptorchidism; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemangioma; High anterior hairline; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Hypoplastic pubic rami; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set, posteriorly rotated ears; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Microtia; Muscular hypotonia; Nystagmus; Optic atrophy; Periventricular cysts; Preauricular pit; Preauricular skin tag; Preaxial hand polydactyly; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Sacral dimple; Scoliosis; Seizures; Severe postnatal growth retardation; Short hallux; Short philtrum; Short stature; Short thumb; Short upper lip; Small for gestational age; Split hand; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Tethered cord; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
LTBP419q13.1-q13.100%gene with protein product604710Autosomal recessive inheritance; Bladder diverticulum; Bronchomalacia; Calf muscle hypertrophy; Cardiomyopathy; Cognitive impairment; Cutis laxa; Delayed speech and language development; Elevated serum creatine phosphokinase; Emphysema; Flexion contracture; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hydronephrosis; Hypertelorism; Inguinal hernia; Joint laxity; Laryngomalacia; Long philtrum; Malar flattening; Micrognathia; Midface retrusion; Motor delay; Patent foramen ovale; Periorbital edema; Progressive muscle weakness; Proximal muscle weakness; Pulmonary artery stenosis; Pulmonary hypoplasia; Pyloric stenosis; Rectal prolapse; Respiratory insufficiency; Retrognathia; Sandal gap; Scoliosis; Skeletal muscle atrophy; Sloping forehead; Specific learning disability; Tracheomalacia; Umbilical hernia; Waddling gait; Wide nasal bridge
MAP3K76q15100%gene with protein product602614TAK1Abnormal form of the vertebral bodies; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the metaphysis; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Bowing of the long bones; Brachydactyly; Broad nasal tip; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital sensorineural hearing impairment; Craniofacial hyperostosis; Decreased testicular size; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Failure of eruption of permanent teeth; Failure to thrive; Freckling; Full cheeks; Fused cervical vertebrae; Gastroesophageal reflux; High palate; High, narrow palate; Hip contracture; Hypertelorism; Hypoplasia of the musculature; Irregular metacarpals; Joint laxity; Joint stiffness; Long fingers; Long metacarpals; Long philtrum; Micrognathia; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Patent ductus arteriosus; Patent foramen ovale; Pointed chin; Posterior vertebral hypoplasia; Posteriorly rotated ears; Prominent supraorbital ridges; Pseudoepiphyses; Pulmonic stenosis; Recurrent otitis media; Reduced number of teeth; Rib fusion; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short foot; Short metacarpal; Short metatarsal; Short palm; Short philtrum; Short stature; Strabismus; Subglottic stenosis; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Telecanthus; Thick eyebrow; Tracheal stenosis; Ulnar deviation of finger; Ulnar deviation of the hand; Upslanted palpebral fissure; Vesicoureteral reflux; Wide nasal bridge
MCEE2p13.3100%gene with protein product608419Autosomal recessive inheritance; Dehydration; Failure to thrive; Gastroesophageal reflux; Ketonuria; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MEIS215q14100%gene with protein product6017402-3 toe syndactyly; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Biparietal narrowing; Broad hallux; Broad thumb; Cleft palate; Cleft upper lip; Coarctation of aorta; Deeply set eye; Delayed speech and language development; Gastroesophageal reflux; Global developmental delay; High anterior hairline; Highly arched eyebrow; Intellectual disability; Large forehead; Microcephaly; Narrow forehead; Pointed chin; Sandal gap; Short 2nd finger; Short 5th finger; Short philtrum; Short stature; Smooth philtrum; Sparse eyebrow; Tented upper lip vermilion; Upslanted palpebral fissure; Ventricular septal defect
MID1Xp22100%gene with protein product300552Abnormal heart morphology; Abnormality of the nasopharynx; Agenesis of corpus callosum; Anal atresia; Anteverted nares; Aspiration; Cleft palate; Cleft upper lip; Cryptorchidism; Dysphagia; Esophageal atresia; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Heterogeneous; High palate; Hypertelorism; Hypospadias; Posterior pharyngeal cleft; Prominent forehead; Smooth philtrum; Telecanthus; Thin upper lip vermilion; Tracheoesophageal fistula; Wide nasal bridge; X-linked recessive inheritanceVACTERL Association
MLXIPL7q11.2399.84%gene with protein product605678WBSCR14Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Broad nasal tip; Chronic constipation; Constipation; Coronary artery stenosis; Cutis laxa; Dental malocclusion; Depressed nasal bridge; Down-sloping shoulders; Enuresis; Epicanthus; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Glucose intolerance; Hallux valgus; Hoarse voice; Hyperacusis; Hyperreflexia; Hypodontia; Impaired visuospatial constructive cognition; Incoordination; Intellectual disability; Intrauterine growth retardation; Joint laxity; Kyphoscoliosis; Large earlobe; Long philtrum; Medial flaring of the eyebrow; Microdontia; Midface retrusion; Mitral regurgitation; Muscular hypotonia; Narrow forehead; Obesity; Obsessive-compulsive trait; Open mouth; Osteopenia; Osteoporosis; Pelvic kidney; Periorbital fullness; Peripheral pulmonary artery stenosis; Phonophobia; Poor coordination; Premature graying of hair; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Renal hypoplasia; Renal insufficiency; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Strabismus; Thick lower lip vermilion; Urethral stenosis; Vesicoureteral reflux
MUC5B11p15.598.32%gene with protein product600770MUC5Bronchiectasis; Clubbing of fingers; Cough; Exertional dyspnea; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT
MYMK9q34.2100%gene with protein product615345TMEM8CAbnormal cardiac septum morphology; Anteverted nares; Aplasia/Hypoplasia of the tongue; Autosomal recessive inheritance; Brachydactyly; Cleft palate; Decreased fetal movement; Depressed nasal bridge; Downslanted palpebral fissures; Dysphagia; Epicanthus; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Gastroesophageal reflux; Glossoptosis; Growth delay; High palate; Hypoplasia of the brainstem; Impaired ocular abduction; Intellectual disability; Long philtrum; Macrocephaly; Microcephaly; Micrognathia; Muscular hypotonia; Myopathy; Oculomotor nerve palsy; Ophthalmoplegia; Pierre-Robin sequence; Plagiocephaly; Ptosis; Respiratory insufficiency; Retrognathia; Scoliosis; Severe muscular hypotonia; Short nose; Short stature; Skeletal muscle atrophy; Talipes equinovarus; Tapered finger; Thin vermilion border; Trismus; Ventriculomegaly
NALCN13q32.3-q33.100%gene with protein product611549VGCNL1Abnormal pyramidal signs; Abnormality of the dentition; Abnormality of the hip bone; Adducted thumb; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Brachycephaly; Camptodactyly; Camptodactyly of finger; Congenital contracture; Congenital onset; Constipation; Cryptorchidism; Decreased motor nerve conduction velocity; Deeply set eye; Delayed speech and language development; Depressed nasal ridge; Dimple chin; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged naris; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Hip contracture; Hyperreflexia; Hypertelorism; Inguinal hernia; Joint stiffness; Knee flexion contracture; Long philtrum; Low-set ears; Macrotia; Malignant hyperthermia; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Nystagmus; Optic atrophy; Overlapping fingers; Pectus carinatum; Poor eye contact; Postnatal growth retardation; Prenatal movement abnormality; Progressive; Prominent forehead; Protruding ear; Ptosis; Pursed lips; Respiratory insufficiency; Round ear; Scoliosis; Seizures; Short columella; Short neck; Short nose; Short stature; Skeletal muscle atrophy; Slender nose; Smooth philtrum; Spastic tetraplegia; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Thin upper lip vermilion; Triangular face; Ulnar deviation of finger; Ulnar deviation of the wrist; Umbilical hernia; Underdeveloped nasal alae; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge
NEXMIFXq13.3100%gene with protein product300524KIAA2022Absent speech; Autistic behavior; Cerebral cortical atrophy; Congenital onset; Esotropia; Failure to thrive; Gastroesophageal reflux; Global developmental delay; Growth delay; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Muscular hypotonia of the trunk; Neonatal hypotonia; Poor eye contact; Postnatal microcephaly; Round face; Seizures; Severe global developmental delay; Shawl scrotum; Short nose; Short philtrum; Spasticity; Stereotypy; Tented upper lip vermilion; Tetraparesis; Ventriculomegaly; X-linked recessive inheritance
NEXMIFXq13.3100%gene with protein product300524KIAA2022Absent speech; Autistic behavior; Cerebral cortical atrophy; Congenital onset; Esotropia; Failure to thrive; Gastroesophageal reflux; Global developmental delay; Growth delay; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Muscular hypotonia of the trunk; Neonatal hypotonia; Poor eye contact; Postnatal microcephaly; Round face; Seizures; Severe global developmental delay; Shawl scrotum; Short nose; Short philtrum; Spasticity; Stereotypy; Tented upper lip vermilion; Tetraparesis; Ventriculomegaly; X-linked recessive inheritance
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
NPHS119q13.12100%gene with protein product602716Abdominal distention; Abnormality of the renal tubule; Autosomal recessive inheritance; Congenital nephrotic syndrome; Congenital onset; Delayed eruption of permanent teeth; Diffuse mesangial sclerosis; Edema; Elevated amniotic fluid alpha-fetoprotein; Gastroesophageal reflux; Growth delay; Hyperlipidemia; Hypoalbuminemia; Hypoproteinemia; Hypothyroidism; Neonatal respiratory distress; Nephrotic syndrome; Proteinuria; Pyloric stenosis; Rapidly progressive; Recurrent infections; Renal insufficiency; Small for gestational age; Tubular atrophyNephrotic Syndrome
NRXN12p16.399.82%gene with protein product600565Autosomal recessive inheritance; Constipation; Drooling; Epileptic encephalopathy; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Hyperventilation; Intellectual disability, severe; Protruding tongue; Pulmonic stenosis; Scoliosis; Strabismus; Wide mouth
NSD24p16.399.98%gene with protein product602952WHSC1Abnormal form of the vertebral bodies; Abnormal heart valve morphology; Abnormal sternal ossification; Abnormality of the kidney; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aplasia cutis congenita of scalp; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Calvarial skull defect; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Congenital diaphragmatic hernia; Convex nasal ridge; Craniofacial asymmetry; Cryptorchidism; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemangioma; High anterior hairline; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Hypoplastic pubic rami; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set, posteriorly rotated ears; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Microtia; Muscular hypotonia; Nystagmus; Optic atrophy; Periventricular cysts; Preauricular pit; Preauricular skin tag; Preaxial hand polydactyly; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Sacral dimple; Scoliosis; Seizures; Severe postnatal growth retardation; Short hallux; Short philtrum; Short stature; Short thumb; Short upper lip; Small for gestational age; Split hand; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Tethered cord; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
NTNG11p13.399.98%gene with protein product608818Abnormality of movement; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Aplasia/Hypoplasia of the cerebellum; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Developmental regression; EEG abnormality; Fine hair; Gastroesophageal reflux; Hearing impairment; Intellectual disability; Long philtrum; Microcephaly; Nephrolithiasis; Seizures; Spasticity; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
ORC11p32.3100%gene with protein product601902ORC1LAbnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the ribs; Absent glenoid fossa; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Blepharophimosis; Breast hypoplasia; Breech presentation; Camptodactyly; Camptodactyly of finger; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat glenoid fossa; Frontal bossing; Gastroesophageal reflux; Genu valgum; Genu varum; Hearing impairment; Hemivertebrae; Heterogeneous; High palate; High, narrow palate; Hyperconvex nail; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Incomplete partition of the cochlea type II; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long eyelashes; Low-set ears; Mandibular aplasia; Microcephaly; Microdontia; Micrognathia; Micropenis; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Pectus carinatum; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Shawl scrotum; Short palm; Short palpebral fissure; Short ribs; Slender long bone; Small anterior fontanelle; Small for gestational age; Small hand; Strabismus; Talipes equinovarus; Thick lower lip vermilion; Thin ribs; Thin skin
ORC42q23.199.23%gene with protein product603056ORC4LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dolichocephaly; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High pitched voice; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Smooth philtrum; Tracheomalacia; Underdeveloped nasal alae
ORC616q11.2100%gene with protein product607213ORC6LAbnormality of epiphysis morphology; Abnormality of the ribs; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Coxa vara; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Downslanted palpebral fissures; Dyspnea; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Genu varum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Laryngomalacia; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microretrognathia; Microtia; Microtia, third degree; Narrow chest; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent nasal bridge; Recurrent pneumonia; Respiratory distress; Respiratory failure; Retrognathia; Scrotal hypoplasia; Severe short stature; Short ribs; Short thorax; Slender long bone; Talipes equinovarus; Thick lower lip vermilion; Tracheomalacia; Triangular face
PARN16p13.1299.86%gene with protein product604212Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of skin pigmentation; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Infantile onset; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
PHOX2B4p13100%gene with protein product603851PMX2BAbnormal pupil morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the mouth; Aganglionic megacolon; Arrhythmia; Autonomic dysregulation; Autosomal dominant inheritance; Breathing dysregulation; Central hypoventilation; Central sleep apnea; Constipation; Death in infancy; Downslanted palpebral fissures; Dysautonomia; Elevated urinary catecholamines; Failure to thrive; Feeding difficulties; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Hyperhidrosis; Intellectual disability; Low-set ears; Muscular hypotonia; Neoplasm of the nervous system; Posteriorly rotated ears; Prolonged QT interval; Respiratory insufficiency; Seizures; Small for gestational age; Strabismus
PIEZO116q24.3100%gene with protein product611184FAM38AAscites; Autosomal dominant inheritance; Autosomal recessive inheritance; Cupped ear; Exercise-induced hemolysis; Facial edema; Gastroesophageal reflux; Generalized edema; Genital edema; Global developmental delay; Hearing impairment; Hydrocele testis; Hypothyroidism; Increased red cell hemolysis by shear stress; Lymphedema; Nonimmune hydrops fetalis; Pectus excavatum; Periorbital edema; Phenotypic variability; Polyhydramnios; Reticulocytosis; Scoliosis; Splenomegaly; Varicose veins; Webbed neckHemolytic Anemia
PIGN18q21.3398.85%gene with protein product606097Abnormal cardiac septum morphology; Absent speech; Agenesis of corpus callosum; Amblyopia; Anal atresia; Anal stenosis; Anteverted nares; Aplasia/Hypoplasia of the nipples; Atrial septal defect; Autosomal recessive inheritance; Broad forehead; Cerebral atrophy; Cerebral cortical atrophy; Choreoathetosis; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Congenital onset; Corneal opacity; Cryptorchidism; Cupped ear; Depressed nasal bridge; Epicanthus; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic fingernail; Hyporeflexia; Intellectual disability; Large fleshy ears; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Median cleft lip; Micrognathia; Multicystic kidney dysplasia; Narrow forehead; Non-midline cleft lip; Nystagmus; Open mouth; Overfolded helix; Patent ductus arteriosus; Polyhydramnios; Posteriorly rotated ears; Pulmonary hypoplasia; Seizures; Severe global developmental delay; Short distal phalanx of finger; Short neck; Short nose; Spasticity; Tented upper lip vermilion; Tetralogy of Fallot; Thickened nuchal skin fold; Thin vermilion border; Tremor; Variable expressivity; Wide intermamillary distance; Wide mouth; Wide nasal bridge
POGZ1q21.3100%gene with protein product614787Abnormal electroretinogram; Abnormality of visual evoked potentials; Astigmatism; Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Brachycephaly; Brachydactyly; Broad nasal tip; Cerebral atrophy; Constipation; Cortical visual impairment; Depressed nasal bridge; Downturned corners of mouth; Facial hypotonia; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hypermetropia; Hypoglycemic seizures; Hypoplasia of the corpus callosum; Intellectual disability; Iris coloboma; Joint laxity; Low-set ears; Mandibular prognathia; Microcephaly; Midface retrusion; Myopia; Open mouth; Optic atrophy; Pointed chin; Posteriorly rotated ears; Rod-cone dystrophy; Self-injurious behavior; Short neck; Short philtrum; Short stature; Strabismus
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
PPM1D17q23.399.99%gene with protein product605100Anteverted nares; Anxiety; Attention deficit hyperactivity disorder; Autistic behavior; Autosomal dominant inheritance; Brachydactyly; Breast carcinoma; Broad forehead; Broad-based gait; Constipation; Delayed speech and language development; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperlordosis; Hypermetropia; Intellectual disability; Low-set ears; Obsessive-compulsive behavior; Posteriorly rotated ears; Short foot; Short stature; Small hand; Small nail; Strabismus; Thin upper lip vermilion; Vomiting; Wide mouth
PRDM161p36.32100%gene with protein product605557Abnormal left ventricle morphology; Absent speech; Agenesis of corpus callosum; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congestive heart failure; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dilated cardiomyopathy; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Left ventricular noncompaction; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
PYCR117q25.399.99%gene with protein product179035Agenesis of corpus callosum; Autosomal recessive inheritance; Beaking of vertebral bodies; Biconcave vertebral bodies; Blepharophimosis; Blue sclerae; Bowing of the long bones; Broad forehead; Congenital glaucoma; Congenital hip dislocation; Cryptorchidism; Cutis laxa; Deeply set eye; Delayed speech and language development; Dermal translucency; Downslanted palpebral fissures; Elbow flexion contracture; Excessive wrinkled skin; Failure to thrive; Fine hair; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Hip dislocation; Hydrocephalus; Hyperextensible skin; Hypertelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Malar flattening; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow nasal ridge; Osteopenia; Osteoporosis; Posteriorly rotated ears; Prominent forehead; Prominent superficial veins; Protruding ear; Recurrent fractures; Redundant skin; Scoliosis; Severe short stature; Sparse hair; Thin skin; Thin vermilion border; Triangular face; Vertebral compression fractures
RAD218q24.1199.96%gene with protein product606462Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Exostoses; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; Widely spaced teeth
RAI117p11.299.96%gene with protein product607642SMCRAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal renal morphology; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome segregation; Abnormality of the dentition; Abnormality of the immune system; Abnormality of the larynx; Abnormality of the outer ear; Abnormality of the thyroid gland; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Broad face; Broad forehead; Broad palm; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Dysphasia; Echolalia; EEG abnormality; Everted upper lip vermilion; Expressive language delay; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Head-banging; Hearing impairment; High hypermetropia; Hoarse voice; Hyperactivity; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Intellectual disability, mild; Large face; Malar flattening; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Morphological abnormality of the middle ear; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Oral-pharyngeal dysphagia; Pes planus; Poor fine motor coordination; Scoliosis; Seizures; Self-injurious behavior; Self-mutilation; Short nose; Short palm; Short philtrum; Short stature; Sleep apnea; Sleep disturbance; Speech apraxia; Sporadic; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Triangular face; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventriculomegaly; Wide nasal bridgeAutoimmune Disorders ; Ectodermal Dysplasia ; Obesity
RAI117p11.299.96%gene with protein product607642SMCRAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal renal morphology; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome segregation; Abnormality of the dentition; Abnormality of the immune system; Abnormality of the larynx; Abnormality of the outer ear; Abnormality of the thyroid gland; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Broad face; Broad forehead; Broad palm; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Dysphasia; Echolalia; EEG abnormality; Everted upper lip vermilion; Expressive language delay; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Head-banging; Hearing impairment; High hypermetropia; Hoarse voice; Hyperactivity; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Intellectual disability, mild; Large face; Malar flattening; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Morphological abnormality of the middle ear; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Oral-pharyngeal dysphagia; Pes planus; Poor fine motor coordination; Scoliosis; Seizures; Self-injurious behavior; Self-mutilation; Short nose; Short palm; Short philtrum; Short stature; Sleep apnea; Sleep disturbance; Speech apraxia; Sporadic; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Triangular face; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventriculomegaly; Wide nasal bridgeAutoimmune Disorders ; Ectodermal Dysplasia ; Obesity
RERE1p36.2398.35%gene with protein product605226ATN1LAbsent speech; Agenesis of corpus callosum; Anteverted nares; Autism; Autistic behavior; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Brachydactyly; Broad eyebrow; Camptodactyly of finger; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High hypermetropia; Horizontal eyebrow; Hypoplasia of the corpus callosum; Hypospadias; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia; Narrow mouth; Optic atrophy; Pointed chin; Poor speech; Posteriorly rotated ears; Seizures; Self-injurious behavior; Short foot; Short stature; Stereotypy; Strabismus; Ventricular septal defect; Ventriculomegaly; Vesicoureteral reflux; Wide nasal bridge
RERE1p36.2398.35%gene with protein product605226ATN1LAbsent speech; Agenesis of corpus callosum; Anteverted nares; Autism; Autistic behavior; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Brachydactyly; Broad eyebrow; Camptodactyly of finger; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High hypermetropia; Horizontal eyebrow; Hypoplasia of the corpus callosum; Hypospadias; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia; Narrow mouth; Optic atrophy; Pointed chin; Poor speech; Posteriorly rotated ears; Seizures; Self-injurious behavior; Short foot; Short stature; Stereotypy; Strabismus; Ventricular septal defect; Ventriculomegaly; Vesicoureteral reflux; Wide nasal bridge
RET10q11.21100%gene with protein product164761HSCR1, MEN2A, MTC1, MEN2BAbdominal pain; Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the foot; Abnormality of the integument; Abnormality of the mouth; Abnormality of the sacrum; Abnormality of the skin; Adrenal pheochromocytoma; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Breathing dysregulation; Cafe-au-lait spot; Central hypoventilation; Central sleep apnea; Cerebral hemorrhage; Chest pain; Colonic diverticula; Congenital cataract; Congenital onset; Congestive heart failure; Constipation; Death in infancy; Depressed nasal ridge; Diarrhea; Disproportionate tall stature; Downslanted palpebral fissures; Dysautonomia; Dysphonia; Elevated calcitonin; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epicanthus; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Fetal polyuria; Flushing; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hemangioma; High, narrow palate; Hypercalcemia; Hyperhidrosis; Hyperlordosis; Hyperparathyroidism; Hypertelorism; Hypertension; Hypertensive retinopathy; Increased circulating cortisol level; Intellectual disability; Intestinal obstruction; Joint laxity; Kyphosis; Low-set ears; Medullary thyroid carcinoma; Muscular hypotonia; Myopathy; Nausea; Nausea and vomiting; Neoplasm; Nodular goiter; Nonketotic hypoglycemia; Oligohydramnios; Palpitations; Paraganglioma of head and neck; Parathyroid adenoma; Parathyroid hyperplasia; Paroxysmal vertigo; Pectus excavatum; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Posteriorly rotated ears; Potter facies; Primary amenorrhea; Proteinuria; Proximal femoral epiphysiolysis; Pulmonary hypoplasia; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal agenesis; Renal artery stenosis; Renal dysplasia; Retrognathia; Scoliosis; Seizures; Sinus tachycardia; Small for gestational age; Strabismus; Tachycardia; Talipes equinovarus; Thick eyebrow; Thick lower lip vermilion; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresia; Weight lossCongenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease
RETREG15p15.1100%gene with protein productformer name = FAM134B613114FAM134BAbnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperhidrosis; Hyperlordosis; Hyporeflexia; Infantile onset; Juvenile onset; Osteolytic defects of the phalanges of the hand; Osteomyelitis; Painless fractures due to injury; Paronychia; Peripheral axonal neuropathy; Peripheral neuropathy; Progressive; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Spasticity; Tapered finger; Urinary incontinence; Wormian bones
RHBDF217q25.3100%gene with protein product614404RHBDL6, TOCAbnormality of the large intestine; Abnormality of the mediastinum; Abnormality of the mouth; Ascites; Autosomal dominant inheritance; Diffuse palmoplantar hyperkeratosis; Dysphagia; Esophageal carcinoma; Esophageal neoplasm; Gastroesophageal reflux; Gastrointestinal hemorrhage; Hepatomegaly; Nausea and vomiting; Palmoplantar keratoderma; Parakeratosis; Poor appetite; Poor suck; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
RNF12518q12.199.82%gene with protein product610432Anteverted nares; Anxiety; Apnea; Autosomal dominant inheritance; Cerebral cortical atrophy; Cerebral palsy; Clumsiness; Delayed cranial suture closure; Delayed speech and language development; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Hydrocephalus; Hypertrichosis; Hypoglycemia; Hypoinsulinemia; Intellectual disability; Keratoconjunctivitis sicca; Large forehead; Macrocephaly; Macroglossia; Mandibular prognathia; Osteopenia; Pneumonia; Raynaud phenomenon; Scoliosis; Seizures; Syncope; Telecanthus; Thick eyebrow; Ventriculomegaly; Wide nose
RPL10Xq28100%gene with protein product312173Abnormal facial shape; Ankle contracture; Branchial cyst; Camptodactyly; Cryptorchidism; Dental crowding; Finger syndactyly; Gastroesophageal reflux; Hypospadias; Knee flexion contracture; Laryngomalacia; Mandibular prognathia; Microcephaly; Muscular hypotonia; Protruding ear; Pulmonary artery stenosis; Recurrent infections; Sacral lipoma; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Single transverse palmar crease; Tapered finger; Thin upper lip vermilion
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
RTEL120q13.3399.99%gene with protein product608833C20orf41Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Decreased antibody level in blood; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Postnatal growth retardation; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
SALL116q12.1100%gene with protein product602218TBS2-3 toe syndactyly; 3-4 finger syndactyly; 3-4 toe syndactyly; Anal atresia; Anal stenosis; Anteriorly placed anus; Aplasia/Hypoplasia of the 3rd toe; Autosomal dominant inheritance; Bifid scrotum; Bifid uterus; Broad thumb; Chorioretinal coloboma; Clinodactyly of the 5th finger; Constipation; Cryptorchidism; Duodenal atresia; External ear malformation; Gastroesophageal reflux; Hearing impairment; Hypospadias; Hypothyroidism; Intellectual disability; Macrotia; Metatarsal synostosis; Microcephaly; Microtia; Overfolded helix; Overfolding of the superior helices; Partial duplication of thumb phalanx; Pes planus; Preauricular skin tag; Preaxial hand polydactyly; Pseudoepiphyses of second metacarpal; Rectoperineal fistula; Rectovaginal fistula; Renal insufficiency; Satyr ear; Short metatarsal; Stahl ear; Subcutaneous nodule; Tetralogy of Fallot; Toe clinodactyly; Triphalangeal thumb; Umbilical hernia; Urethral valve; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; VACTERL Association
SAMD97q21.2100%gene with protein product610456C7orf5Abnormality of the skin; Adrenal insufficiency; Aspiration pneumonia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcinosis; Chronic diarrhea; Conjunctivitis; Cryptorchidism; Decreased body weight; Decreased testicular size; Gastroesophageal reflux; Gingivitis; Global developmental delay; Hypergonadotropic hypogonadism; Hyperkalemia; Hypoglycemia; Hyponatremia; Hypospadias; Intrauterine growth retardation; Microphallus; Motor delay; Overlapping fingers; Patent ductus arteriosus; Petechiae; Radial club hand; Recurrent bacterial infections; Recurrent urinary tract infections; Rocker bottom foot; Scoliosis; Sepsis; Short stature; Talipes equinovarusAplastic Anemia ; Bone Marrow Failure Syndromes
SCN9A2q24.399.99%gene with protein product603415Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the musculature; Absence seizures; Acral ulceration leading to autoamputation of digits; Anal pain; Anhidrosis; Anosmia; Areflexia; Ataxia; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Bradycardia; Constipation; Cutaneous photosensitivity; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Diarrhea; Dysautonomia; Dystrophic fingernails; Dystrophic toenail; EEG abnormality; Episodic hyperhidrosis; Erythema; Febrile seizures; Feeding difficulties in infancy; Focal clonic seizures; Focal seizures; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hyperhidrosis; Hyperlordosis; Hypohidrosis; Hyporeflexia; Hyposmia; Impaired pain sensation; Infantile onset; Jaw pain; Juvenile onset; Keratoconjunctivitis sicca; Lacrimation abnormality; Mandibular pain; Muscular hypotonia; Myalgia; Neonatal onset; Neurodevelopmental delay; Obtundation status; Ocular pain; Osteolytic defects of the phalanges of the hand; Pain insensitivity; Painless fractures due to injury; Palpitations; Paronychia; Peripheral neuropathy; Pruritus; Pschomotor retardation; Reduced bone mineral density; Seizures; Skeletal muscle atrophy; Slow progression; Tachycardia; Tapered finger; Tremor; Urinary incontinence; Variable expressivity; Wormian bones; Xerostomia
SEMA3E7q21.11100%gene with protein product608166SEMAHAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormality of female internal genitalia; Abnormality of the soft palate; Anophthalmia; Anosmia; Anterior hypopituitarism; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Choanal atresia; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Depressed nasal bridge; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Duodenal atresia; Dysphagia; Esophageal atresia; External ear malformation; Facial asymmetry; Facial palsy; Feeding difficulties; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the semicircular canal; Hypothyroidism; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphopenia; Malar flattening; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Ptosis; Pulmonic stenosis; Short stature; Sparse axillary hair; Sparse pubic hair; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Umbilical hernia; Ventricular septal defect
SETD53p25.3100%gene with protein product615743Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downturned corners of mouth; Drooling; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Scoliosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Upslanted palpebral fissure; Vesicoureteral reflux; Widely spaced teeth
SFTPA110q22.3100%gene with protein product178630SFTP1Bronchiectasis; Clubbing of fingers; Cough; Exertional dyspnea; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT
SFTPA210q22.399.97%gene with protein product178642Alveolar cell carcinoma; Autosomal dominant inheritance; Bronchiectasis; Cirrhosis; Clubbing of fingers; Cough; Exertional dyspnea; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Increased antibody level in blood; Pneumonia; Pulmonary arterial hypertension; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT
SFTPC8p21.3100%gene with protein product178620SFTP2Alveolar cell carcinoma; Alveolar proteinosis; Autosomal dominant inheritance; Bronchiectasis; Cirrhosis; Clubbing; Clubbing of fingers; Cough; Cyanosis; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Heterogeneous; Honeycomb lung; Incomplete penetrance; Increased antibody level in blood; Interstitial pneumonitis; Pneumonia; Pulmonary arterial hypertension; Pulmonary fibrosis; Rales; Recurrent respiratory infections; Respiratory distress; Reticular pattern on pulmonary HRCT; Tachypnea; Tubulointerstitial fibrosis
SHANK322q13.3399.21%gene with protein product6062302-3 toe syndactyly; Abnormality of the dentition; Accelerated skeletal maturation; Autism; Autistic behavior; Broad-based gait; Bruxism; Bulbous nose; Clinodactyly of the 5th finger; Concave nasal ridge; Deeply set eye; Delayed speech and language development; Dental malocclusion; Dolichocephaly; Epicanthus; Episodic vomiting; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Heat intolerance; High palate; Hyperactivity; Hyperorality; Hypohidrosis; Hypoplastic toenails; Hyporeflexia; Immunodeficiency; Impaired pain sensation; Intellectual disability, moderate; Large hands; Long eyelashes; Long philtrum; Lymphedema; Macrocephaly; Macrotia; Malar flattening; Motor delay; Neonatal hypotonia; Palpebral edema; Pointed chin; Poor eye contact; Prominent supraorbital ridges; Protruding ear; Ptosis; Sacral dimple; Seizures; Short chin; Sporadic; Strabismus; Tall stature; Thick eyebrow; Toenail dysplasia; Unsteady gait; Wide nasal bridge
SHROOM4Xp11.22100%gene with protein product300579Bruxism; Depressed nasal bridge; Epicanthus; Gastroesophageal reflux; Global developmental delay; Hip dislocation; Hirsutism; Hyperactivity; Hypertelorism; Intellectual disability, profound; Kyphosis; Microcephaly; Scoliosis; Short foot; Short stature; Small hand; Strabismus; Talipes equinovarus; X-linked inheritance
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SLC46A117q11.2100%gene with protein product611672Abnormality of movement; Anorexia; Ataxia; Athetosis; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Cheilitis; Decreased antibody level in blood; Diarrhea; Dyskinesia; Failure to thrive; Feeding difficulties in infancy; Folate-responsive megaloblastic anemia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glossitis; Infantile onset; Intellectual disability; Irritability; Leukopenia; Malabsorption; Megaloblastic anemia; Nausea and vomiting; Neutropenia; Oral ulcer; Pallor; Peripheral neuropathy; Recurrent infections; Seizures; Thrombocytopenia
SLC6A35p15.33100%gene with protein product126455DAT1Abnormal pyramidal signs; Autosomal recessive inheritance; Bradykinesia; Chorea; Constipation; Delayed gross motor development; Dyskinesia; Feeding difficulties; Gastroesophageal reflux; Global developmental delay; Hypertonia; Infantile onset; Limb dystonia; Morphological abnormality of the pyramidal tract; Muscular hypotonia of the trunk; Parkinsonism; Progressive; Rigidity; Tremor
SLC6A511p15.1100%gene with protein product604159NET1Apnea; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Gait disturbance; Gastroesophageal reflux; Hiatus hernia; Hyperreflexia; Hypertonia; Infantile onset; Joint stiffness; Muscle stiffness; Myoclonus; Rigidity; Sleep disturbance; Spasticity; Umbilical hernia
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SMC1AXp11.2299.82%gene with protein product300040SMC1L1Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Clinodactyly; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Narrow forehead; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Ventriculomegaly; Vesicoureteral reflux; Widely spaced teeth; X-linked dominant inheritance; X-linked recessive inheritance
SMC1AXp11.2299.82%gene with protein product300040SMC1L1Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Clinodactyly; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Narrow forehead; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Ventriculomegaly; Vesicoureteral reflux; Widely spaced teeth; X-linked dominant inheritance; X-linked recessive inheritance
SMC310q25.299.98%gene with protein product606062CSPG6Abnormal cardiac septum morphology; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Bulbous nose; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Thick eyebrow; Thick hair; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Widely spaced teeth
SMC310q25.299.98%gene with protein product606062CSPG6Abnormal cardiac septum morphology; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Bulbous nose; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Thick eyebrow; Thick hair; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Widely spaced teeth
SMG919q13.31100%gene with protein product613176C19orf61Abnormality of the pinna; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Camptodactyly of finger; Cerebral atrophy; Cleft lip; Dandy-Walker malformation; Delayed CNS myelination; Depressed nasal bridge; Everted lower lip vermilion; Gastroesophageal reflux; Generalized hypotonia; Global brain atrophy; Global developmental delay; Growth delay; Hand clenching; High, narrow palate; Hyperactive deep tendon reflexes; Hypertelorism; Hypoplasia of the corpus callosum; Interrupted aortic arch; Low-set ears; Microcephaly; Microphthalmia; Muscular hypotonia of the trunk; Narrow forehead; Polyhydramnios; Poor eye contact; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Prominent occiput; Thick lower lip vermilion; Ventricular septal defect; Visual impairment; Wide anterior fontanel; Wide nasal bridge
SSR4Xq2899.98%gene with protein product300090Abnormal facial shape; Abnormality of upper lip vermillion; Clinodactyly; Congenital onset; Deeply set eye; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hypospadias; Intellectual disability; Joint dislocation; Macrotia; Microcephaly; Micrognathia; Scoliosis; Seizures; Strabismus; Type I transferrin isoform profile; Vomiting; Wide mouth; Widely spaced teeth; X-linked recessive inheritance
STN110q24.33100%gene with protein productFormer name = OBFC1613128OBFC1Ataxia; Autosomal recessive inheritance; Bronchiectasis; Clubbing of fingers; Cough; Dystonia; Esophageal varix; Exertional dyspnea; Gastroesophageal reflux; Gastrointestinal hemorrhage; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Intrauterine growth retardation; Osteopenia; Pancytopenia; Portal hypertension; Premature graying of hair; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT; Retinal telangiectasia; SpasticityBone Marrow Failure Syndromes
STXBP19q34.11100%gene with protein product602926Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; Clinodactyly of the 5th finger; Cutaneous photosensitivity; Developmental regression; EEG abnormality; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Febrile seizures; Fine hair; Focal clonic seizures; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Hearing impairment; Hypoplasia of the corpus callosum; Hypsarrhythmia; Impaired horizontal smooth pursuit; Infantile encephalopathy; Infantile spasms; Intellectual disability; Intellectual disability, severe; Long philtrum; Microcephaly; Muscular hypotonia; Myoclonus; Neonatal onset; Nephrolithiasis; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Seizures; Severe global developmental delay; Spastic paraplegia; Spastic tetraplegia; Spasticity; Status epilepticus; Thick vermilion border; Tremor; Underdeveloped nasal alae; Variable expressivity; Ventriculomegaly; Wide mouth; Wide nose
TCF418q21.2100%gene with protein product602272Abnormal large intestine physiology; Abnormality of the palate; Absent speech; Acrocyanosis; Aggressive behavior; Anteverted nares; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Ascites; Astigmatism; Autoimmunity; Autosomal dominant inheritance; Broad fingertip; Cirrhosis; Clinodactyly; Clubbing; Coarse facial features; Constipation; Cryptorchidism; Cupped ear; Deeply set eye; Dilated superficial abdominal veins; Dysautonomia; Dysphasia; Echolalia; Elevated alkaline phosphatase of hepatic origin; Elevated hepatic transaminases; Encephalopathy; Esophagitis; Failure of eruption of permanent teeth; Failure to thrive; Feeding difficulties; Fever; Finger clinodactyly; Full cheeks; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hiatus hernia; Hyperventilation; Hypoplasia of the corpus callosum; Incoordination; Intellectual disability, moderate; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Microcephaly; Micropenis; Misalignment of teeth; Motor delay; Muscular hypotonia; Mutism; Myopia; Narrow foot; Narrow forehead; Open mouth; Overhanging nasal tip; Palmar telangiectasia; Pes planus; Pes valgus; Portal hypertension; Prominent nasal bridge; Seizures; Short metatarsal; Short neck; Short philtrum; Single transverse palmar crease; Sleep apnea; Small cerebral cortex; Small hand; Specific learning disability; Spider hemangioma; Splenomegaly; Strabismus; Tapered finger; Thick vermilion border; Thickened helices; Triangular nasal tip; Ulcerative colitis; Upslanted palpebral fissure; Weight loss; Wide mouth; Wide nasal bridge; Widely spaced teeth
TCF418q21.2100%gene with protein product602272Abnormal large intestine physiology; Abnormality of the palate; Absent speech; Acrocyanosis; Aggressive behavior; Anteverted nares; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Ascites; Astigmatism; Autoimmunity; Autosomal dominant inheritance; Broad fingertip; Cirrhosis; Clinodactyly; Clubbing; Coarse facial features; Constipation; Cryptorchidism; Cupped ear; Deeply set eye; Dilated superficial abdominal veins; Dysautonomia; Dysphasia; Echolalia; Elevated alkaline phosphatase of hepatic origin; Elevated hepatic transaminases; Encephalopathy; Esophagitis; Failure of eruption of permanent teeth; Failure to thrive; Feeding difficulties; Fever; Finger clinodactyly; Full cheeks; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hiatus hernia; Hyperventilation; Hypoplasia of the corpus callosum; Incoordination; Intellectual disability, moderate; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Microcephaly; Micropenis; Misalignment of teeth; Motor delay; Muscular hypotonia; Mutism; Myopia; Narrow foot; Narrow forehead; Open mouth; Overhanging nasal tip; Palmar telangiectasia; Pes planus; Pes valgus; Portal hypertension; Prominent nasal bridge; Seizures; Short metatarsal; Short neck; Short philtrum; Single transverse palmar crease; Sleep apnea; Small cerebral cortex; Small hand; Specific learning disability; Spider hemangioma; Splenomegaly; Strabismus; Tapered finger; Thick vermilion border; Thickened helices; Triangular nasal tip; Ulcerative colitis; Upslanted palpebral fissure; Weight loss; Wide mouth; Wide nasal bridge; Widely spaced teeth
TECPR214q32.33100%gene with protein product615000KIAA0329Areflexia; Autosomal recessive inheritance; Brachycephaly; Broad neck; Central apnea; Cerebral atrophy; Dental crowding; Dysarthria; Dysmetria; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hypomimic face; Hypoplasia of the corpus callosum; Low anterior hairline; Microcephaly; Round face; Short neck; Short stature; Spastic gait;