XomeDxSlice Tool

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

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Phenotypes
Long face

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
AKT114q32.3399.98%gene with protein product164730Abnormal form of the vertebral bodies; Abnormal lung lobation; Abnormal subcutaneous fat tissue distribution; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the penis; Adenoma sebaceum; Adult onset; Angioid streaks of the fundus; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Bronchogenic cyst; Cachexia; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Decreased muscle mass; Deep venous thrombosis; Depigmentation/hyperpigmentation of skin; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Epibulbar dermoid; Epidermal acanthosis; Epidermal nevus; Facial hyperostosis; Fibroadenoma of the breast; Finger syndactyly; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hemihypertrophy; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hydrocele testis; Hyperkeratosis; Hypertelorism; Hyperthyroidism; Hypertrophy of skin of soles; Hypoplasia of the maxilla; Hypothyroidism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Irregular hyperpigmentation; Kyphoscoliosis; Kyphosis; Lipoma; Long face; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular hyperostosis; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopia; Narrow mouth; Neoplasm of the stomach; Open mouth; Ovarian cyst; Ovarian papillary adenocarcinoma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Progressive; Progressive macrocephaly; Ptosis; Pulmonary embolism; Renal cell carcinoma; Round face; Scoliosis; Seizures; Skeletal dysplasia; Skin tags; Somatic mutation; Spinal canal stenosis; Spinal cord compression; Splenomegaly; Sporadic; Subcutaneous lipoma; Subcutaneous nodule; Thin bony cortex; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Upper limb asymmetry; Uterine leiomyosarcoma; Varicocele; Vascular skin abnormality; Venous malformation; Visceral angiomatosis
AP1S2Xp22.2100%gene with protein product300629MRX59, MRXS5, PGSAggressive behavior; Aplasia/Hypoplasia of the cerebellum; Autistic behavior; Cerebral calcification; Cerebral cortical atrophy; Coarse facial features; Cryptorchidism; Gait disturbance; Global developmental delay; High palate; Hydrocephalus; Inguinal hernia; Intellectual disability, moderate; Long face; Macrocephaly; Macrotia; Muscular hypotonia; Poor speech; Scoliosis; Short philtrum; Spastic diplegia; Strabismus; Ventriculomegaly
APC219p13.399.99%gene with protein product612034Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Conductive hearing impairment; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Global developmental delay; High forehead; High palate; Hyperactivity; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Macrocephaly; Macrotia; Mandibular prognathia; Muscular hypotonia; Obesity; Poor speech; Precocious puberty; Prominent forehead; Prominent nose; Relative macrocephaly; Tall stature; Ventriculomegaly
ARL13B3q11.1-q11.2100%gene with protein product608922ARL2L1Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Obesity; Oculomotor apraxia; Optic disc pallor; Pigmentary retinopathyHeterotaxy
ARMC92q37.199.99%gene with protein product617612Apnea; Ataxia; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
ARVCF22q11.21100%gene with protein product602269Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; 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
ASXL22p23.399.89%gene with protein product612991Atrial septal defect; Autosomal dominant inheritance; Broad nasal tip; Deep palmar crease; Delayed speech and language development; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Kyphosis; Long face; Low-set ears; Macrocephaly; Phenotypic variability; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Ventriculomegaly
ATAD3A1p36.3399.55%gene with protein product612316Abnormality of the foot; Absence seizures; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Deeply set eye; Delayed speech and language development; Distal amyotrophy; Esotropia; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; High forehead; Hip dysplasia; Inability to walk; Infantile onset; Intellectual disability; Long face; Mandibular prognathia; Micrognathia; Muscular hypotonia of the trunk; Myopia; Nystagmus; Optic atrophy; Peripheral axonal neuropathy; Scoliosis; Short nose; Upslanted palpebral fissure
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
B9D117p11.2100%gene with protein product614144Abnormal chorioretinal morphology; Abnormality of the posterior cranial fossa; Ambiguous genitalia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Limb undergrowth; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes; Talipes equinovarusHeterotaxy
BCORXp11.4100%gene with protein product3004852-3 toe syndactyly; Abnormal cardiac septum morphology; Abnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Aortic valve stenosis; Asymmetry of the ears; Atrial septal defect; Bicuspid aortic valve; Bifid nasal tip; Bifid uvula; Blepharophimosis; Blindness; Broad nasal tip; Broad palm; Camptodactyly; Camptodactyly of finger; Cataract; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Complete duplication of thumb phalanx; Congenital cataract; Cryptorchidism; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Down-sloping shoulders; Exotropia; External ear malformation; Finger syndactyly; Flexion contracture of the 2nd toe; Flexion contracture of the 4th toe; Fused teeth; Generalized hypotonia; Glaucoma; Growth delay; Hammertoe; Hearing impairment; High, narrow palate; Hydronephrosis; Hydroureter; Hypospadias; Increased number of teeth; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Laterally curved eyebrow; Long face; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Microcephaly; Microcornea; Microphthalmia; Misalignment of teeth; Mitral valve prolapse; Motor delay; Narrow chest; Narrow face; Oligodontia; Optic nerve coloboma; Oral cleft; Overfolded helix; Patent ductus arteriosus; Pectus excavatum; Persistence of primary teeth; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonic stenosis; Pyloric stenosis; Radial deviation of finger; Radioulnar synostosis; Rectal prolapse; Recurrent otitis media; Remnants of the hyaloid vascular system; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Sensorineural hearing impairment; Septate vagina; Short clavicles; Short stature; Spastic diplegia; Submucous cleft hard palate; Syndactyly; Thick eyebrow; Ventricular septal defect; Visual loss; Webbed neck; X-linked dominant inheritance; X-linked inheritanceDisorders of Sex Development
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
BRWD3Xq21.199.97%gene with protein product300553Cryptorchidism; Cupped ear; Delayed speech and language development; Frontal bossing; Generalized hypotonia; Intellectual disability, mild; Long face; Macrocephaly; Macrotia; Pes planus; Prominent forehead; X-linked recessive inheritance
C12ORF5712p13.31100%gene with protein product615140Agenesis of corpus callosum; Aortic aneurysm; Aortic regurgitation; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachydactyly; Chorioretinal coloboma; Coarse facial features; Convex nasal ridge; Dental crowding; Dolichocephaly; Downslanted palpebral fissures; Ectopia lentis; Frontal bossing; Generalized hypotonia; Genu varum; Global developmental delay; Highly arched eyebrow; Hip dislocation; Hypertelorism; Hypoplasia of teeth; Infantile onset; Intellectual disability; Intellectual disability, mild; Iris coloboma; Long face; Long philtrum; Lop ear; Low-set ears; Macrocephaly; Micrognathia; Myopia; Pes planus; Short 2nd toe; Short toe; Talipes equinovarus; Ventriculomegaly
C12ORF5712p13.31100%gene with protein product615140Agenesis of corpus callosum; Aortic aneurysm; Aortic regurgitation; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachydactyly; Chorioretinal coloboma; Coarse facial features; Convex nasal ridge; Dental crowding; Dolichocephaly; Downslanted palpebral fissures; Ectopia lentis; Frontal bossing; Generalized hypotonia; Genu varum; Global developmental delay; Highly arched eyebrow; Hip dislocation; Hypertelorism; Hypoplasia of teeth; Infantile onset; Intellectual disability; Intellectual disability, mild; Iris coloboma; Long face; Long philtrum; Lop ear; Low-set ears; Macrocephaly; Micrognathia; Myopia; Pes planus; Short 2nd toe; Short toe; Talipes equinovarus; Ventriculomegaly
CAMTA11p36.31-p36.100%gene with protein product611501Abnormal cortical gyration; Abnormal social behavior; Aggressive behavior; Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Bulbous nose; Cerebellar hypoplasia; Cerebral cortical atrophy; Constipation; Deeply set eye; Delayed speech and language development; Dysarthria; Dysmetria; Global developmental delay; Intellectual disability, mild; Long face; Long philtrum; Memory impairment; Neonatal hypotonia; Nonprogressive cerebellar ataxia; Pointed chin; Segmental myoclonic seizures; Strabismus; Thick lower lip vermilion; Unsteady gait; Wide nose
CAMTA11p36.31-p36.100%gene with protein product611501Abnormal cortical gyration; Abnormal social behavior; Aggressive behavior; Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Bulbous nose; Cerebellar hypoplasia; Cerebral cortical atrophy; Constipation; Deeply set eye; Delayed speech and language development; Dysarthria; Dysmetria; Global developmental delay; Intellectual disability, mild; Long face; Long philtrum; Memory impairment; Neonatal hypotonia; Nonprogressive cerebellar ataxia; Pointed chin; Segmental myoclonic seizures; Strabismus; Thick lower lip vermilion; Unsteady gait; Wide nose
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CCDC1743p25.197.88%gene with protein product616735C3orf19Autosomal recessive inheritance; Cryptorchidism; Decreased fetal movement; Delayed speech and language development; Dilation of lateral ventricles; Global developmental delay; Hypoplasia of the corpus callosum; Long face; Myopathic facies; Myopathy; Neonatal hypotonia; Open mouth; Respiratory insufficiency due to muscle weakness; Severe muscular hypotonia; Strabismus; Ventricular septal defect
CEP1041p36.32100%gene with protein product616690KIAA0562Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Infantile onset; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
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
CHRNB117p13.1100%gene with protein product100710CHRNBAutosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Easy fatigability; Facial palsy; Feeding difficulties; High palate; Long face; Muscle weakness; Muscular hypotonia; Narrow face; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Respiratory insufficiency; Skeletal muscle atrophy
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
CHRNG2q37.1100%gene with protein product100730ACHRGAbnormal cervical curvature; Abnormal facial shape; Abnormality of the foot; Abnormality of the neck; Absence of labia majora; Akinesia; Amyoplasia; Antecubital pterygium; Anterior clefting of vertebral bodies; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the skin; Arachnodactyly; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Axillary pterygia; Bilateral camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cleft palate; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal ridge; Diaphragmatic eventration; Dislocated radial head; Downslanted palpebral fissures; Downturned corners of mouth; Dysplastic patella; Edema; Epicanthus; Exostosis of the external auditory canal; Facial asymmetry; Fetal akinesia sequence; Finger syndactyly; Flexion contracture; Fused cervical vertebrae; High palate; Hip dislocation; Hypertelorism; Hypogonadism; Hypoplastic heart; Hypoplastic nipples; Hypospadias; Increased susceptibility to fractures; Inguinal hernia; Intercrural pterygium; Intrauterine growth retardation; Joint dislocation; Kyphosis; Limitation of joint mobility; Long clavicles; Long face; Long philtrum; Low-set ears; Malignant hyperthermia; Microcephaly; Micrognathia; Multiple pterygia; Narrow mouth; Neck pterygia; Neonatal respiratory distress; Patellar aplasia; Pectus excavatum; Pointed chin; Polyhydramnios; Popliteal pterygium; Ptosis; Pulmonary hypoplasia; Rib fusion; Rocker bottom foot; Scoliosis; Short finger; Short stature; Symphalangism affecting the phalanges of the hand; Syndactyly; Talipes calcaneovalgus; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Vertebral fusion; Vertebral segmentation defect; Webbed neck
CHRNG2q37.1100%gene with protein product100730ACHRGAbnormal cervical curvature; Abnormal facial shape; Abnormality of the foot; Abnormality of the neck; Absence of labia majora; Akinesia; Amyoplasia; Antecubital pterygium; Anterior clefting of vertebral bodies; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the skin; Arachnodactyly; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Axillary pterygia; Bilateral camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cleft palate; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal ridge; Diaphragmatic eventration; Dislocated radial head; Downslanted palpebral fissures; Downturned corners of mouth; Dysplastic patella; Edema; Epicanthus; Exostosis of the external auditory canal; Facial asymmetry; Fetal akinesia sequence; Finger syndactyly; Flexion contracture; Fused cervical vertebrae; High palate; Hip dislocation; Hypertelorism; Hypogonadism; Hypoplastic heart; Hypoplastic nipples; Hypospadias; Increased susceptibility to fractures; Inguinal hernia; Intercrural pterygium; Intrauterine growth retardation; Joint dislocation; Kyphosis; Limitation of joint mobility; Long clavicles; Long face; Long philtrum; Low-set ears; Malignant hyperthermia; Microcephaly; Micrognathia; Multiple pterygia; Narrow mouth; Neck pterygia; Neonatal respiratory distress; Patellar aplasia; Pectus excavatum; Pointed chin; Polyhydramnios; Popliteal pterygium; Ptosis; Pulmonary hypoplasia; Rib fusion; Rocker bottom foot; Scoliosis; Short finger; Short stature; Symphalangism affecting the phalanges of the hand; Syndactyly; Talipes calcaneovalgus; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Vertebral fusion; Vertebral segmentation defect; Webbed neck
COMT22q11.21100%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 116790Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
CSPP18q13.1-q13.299.9%gene with protein product611654Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Dyspnea; Elongated superior cerebellar peduncle; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posterior fossa cyst; Ptosis; Sclerocornea; Sloping forehead; Strabismus; Talipes; Variable expressivityHeterotaxy ; Short-Rib Thoracic Dysplasia
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
EIF2S3Xp22.11100%gene with protein product300161EIF2GAggressive behavior; Agitation; Babinski sign; Broad nasal tip; Cleft lip; Cleft palate; Cryptorchidism; Delayed puberty; Delayed speech and language development; Depressed nasal tip; Difficulty walking; Downturned corners of mouth; Drooling; EEG abnormality; Full cheeks; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hyperreflexia; Hypertonia; Hypoglycemia; Hypogonadism; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability; Intellectual disability, severe; Large earlobe; Long face; Long philtrum; Macrotia; Microcephaly; Micropenis; Muscular hypotonia; Myopia; Nystagmus; Obesity; Open mouth; Poor speech; Round face; Seizures; Severe global developmental delay; Short stature; Sloping forehead; Spastic tetraparesis; Strabismus; Talipes equinovarus; Tall chin; Tapered finger; Thick vermilion border; Variable expressivity; Ventriculomegaly; Widely spaced teeth; X-linked recessive inheritanceObesity
EYA18q13.3100%gene with protein product601653BORAbnormal dermatoglyphics; Abnormality of the antihelix; Abnormality of the cerebrum; Abnormality of the clavicle; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Anteverted nares; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Cochlear malformation; Conductive hearing impairment; Congenital hip dislocation; Cupped ear; Delayed skeletal maturation; Depressed nasal bridge; Dilatated internal auditory canal; Down-sloping shoulders; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Full cheeks; Global developmental delay; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hyperreflexia; Hypertonia; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Long face; Long neck; Low-set ears; Macrotia; Microdontia; Microtia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Narrow nose; Neurological speech impairment; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Protruding ear; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Retrognathia; Scapular winging; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
EYA18q13.3100%gene with protein product601653BORAbnormal dermatoglyphics; Abnormality of the antihelix; Abnormality of the cerebrum; Abnormality of the clavicle; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Anteverted nares; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Cochlear malformation; Conductive hearing impairment; Congenital hip dislocation; Cupped ear; Delayed skeletal maturation; Depressed nasal bridge; Dilatated internal auditory canal; Down-sloping shoulders; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Full cheeks; Global developmental delay; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hyperreflexia; Hypertonia; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Long face; Long neck; Low-set ears; Macrotia; Microdontia; Microtia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Narrow nose; Neurological speech impairment; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Protruding ear; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Retrognathia; Scapular winging; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FGF311q13.3100%gene with protein product164950INT2Abnormality of canine; Abnormality of dental enamel; Abnormality of the cranial nerves; Abnormality of the maxilla; Agenesis of premolar; Anteverted ears; Anteverted nares; Aplasia of the inner ear; Autosomal recessive inheritance; Carious teeth; Conical tooth; Delayed eruption of teeth; Delayed gross motor development; Downslanted palpebral fissures; Full cheeks; Gingival overgrowth; High-frequency sensorineural hearing impairment; Long face; Long philtrum; Microdontia; Micrognathia; Microtia; Microtia, first degree; Periodontitis; Pointed chin; Profound sensorineural hearing impairment; Progressive sensorineural hearing impairment; Pulp stones; Sensorineural hearing impairment; Skin tags; Taurodontia; Underdeveloped nasal alae; Wide nasal bridge; Widely spaced teeth
FGF311q13.3100%gene with protein product164950INT2Abnormality of canine; Abnormality of dental enamel; Abnormality of the cranial nerves; Abnormality of the maxilla; Agenesis of premolar; Anteverted ears; Anteverted nares; Aplasia of the inner ear; Autosomal recessive inheritance; Carious teeth; Conical tooth; Delayed eruption of teeth; Delayed gross motor development; Downslanted palpebral fissures; Full cheeks; Gingival overgrowth; High-frequency sensorineural hearing impairment; Long face; Long philtrum; Microdontia; Micrognathia; Microtia; Microtia, first degree; Periodontitis; Pointed chin; Profound sensorineural hearing impairment; Progressive sensorineural hearing impairment; Pulp stones; Sensorineural hearing impairment; Skin tags; Taurodontia; Underdeveloped nasal alae; Wide nasal bridge; Widely spaced teeth
FGF311q13.3100%gene with protein product164950INT2Abnormality of canine; Abnormality of dental enamel; Abnormality of the cranial nerves; Abnormality of the maxilla; Agenesis of premolar; Anteverted ears; Anteverted nares; Aplasia of the inner ear; Autosomal recessive inheritance; Carious teeth; Conical tooth; Delayed eruption of teeth; Delayed gross motor development; Downslanted palpebral fissures; Full cheeks; Gingival overgrowth; High-frequency sensorineural hearing impairment; Long face; Long philtrum; Microdontia; Micrognathia; Microtia; Microtia, first degree; Periodontitis; Pointed chin; Profound sensorineural hearing impairment; Progressive sensorineural hearing impairment; Pulp stones; Sensorineural hearing impairment; Skin tags; Taurodontia; Underdeveloped nasal alae; Wide nasal bridge; Widely spaced teeth
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
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
GFPT12p13.399.97%gene with protein product138292GFPTAbnormality of the immune system; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Decreased fetal movement; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Generalized hypotonia; Gowers sign; High palate; Infantile onset; Juvenile onset; Long face; Mandibular prognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Nonprogressive; Ophthalmoparesis; Proximal amyotrophy; Ptosis; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Type 2 muscle fiber atrophy; Variable expressivity; Waddling gait; Weak cry
GP1BB22q11.2199.89%gene with protein product138720Abnormal aortic arch morphology; Abnormal bleeding; Abnormal pulmonary valve morphology; Abnormality of abdomen morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Epistaxis; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Increased mean platelet volume; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Menorrhagia; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prolonged bleeding time; Prominent nasal bridge; Ptosis; Purpura; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Thrombocytopenia; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
GPR101Xq26.3100%gene with protein product300393Abnormal toenail morphology; Abnormality of the fingernails; Acanthosis nigricans; Accelerated skeletal maturation; Anterior hypopituitarism; Anxiety; Arthralgia; Broad foot; Broad forehead; Broad jaw; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Fatigue; Frontal bossing; Full cheeks; Generalized hirsutism; Growth hormone excess; Hoarse voice; Hyperhidrosis; Hypertension; Joint swelling; Kyphosis; Large hands; Long face; Long foot; Long penis; Macrodactyly; Macroglossia; Macrotia; Mandibular prognathia; Migraine; Osteoarthritis; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary prolactin cell adenoma; Polyphagia; Sleep apnea; Snoring; Spinal canal stenosis; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Ventricular hypertrophy; Wide nose; Widely spaced teeth; X-linked dominant inheritance
HERC115q22.31100%gene with protein product605109Arachnodactyly; Autosomal recessive inheritance; Congenital onset; Downslanted palpebral fissures; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hypertelorism; Intellectual disability; Joint laxity; Kyphosis; Large hands; Long face; Long foot; Long neck; Low-set ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Pes planus; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Proptosis; Scoliosis; Sparse eyebrow; Tall stature; Triangular face; Upslanted palpebral fissure; Ventriculomegaly
HIRA22q11.2199.99%gene with protein product600237TUPLE1Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
HNRNPK9q21.3299.97%gene with protein product600712HNRPKAutosomal dominant inheritance; Constipation; Craniosynostosis; Cryptorchidism; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Feeding difficulties; Generalized hypotonia; Global developmental delay; High palate; Hip dysplasia; Intellectual disability; Inverted nipples; Long face; Long palpebral fissure; Microtia; Oligodontia; Open mouth; Overlapping toe; Pectus excavatum; Poor speech; Postaxial polydactyly; Ptosis; Sacral dimple; Scoliosis; Sparse lateral eyebrow; Thickened nuchal skin fold; Underdeveloped nasal alae; Wide intermamillary distance; Wide nasal ridge
HYLS111q24.2100%gene with protein product610693Abnormal cortical gyration; Abnormality of cardiovascular system morphology; Abnormality of the sense of smell; Abnormality of the vagina; Absent septum pellucidum; Accessory spleen; Adrenal gland dysgenesis; Agenesis of corpus callosum; Agenesis of the diaphragm; Apnea; Arrhinencephaly; Ataxia; Autosomal recessive inheritance; Bifid nose; Bifid uvula; Biparietal narrowing; Broad neck; Cerebellar vermis hypoplasia; Dandy-Walker malformation; Deeply set eye; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Gingival cleft; Global developmental delay; Heterotopia; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Laryngomalacia; Long face; Low-set, posteriorly rotated ears; Median cleft lip; Micrognathia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Omphalocele; Polyhydramnios; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proximal tibial hypoplasia; Retrognathia; Submucous cleft hard palate; Tracheal atresia; Unilateral cleft lip; Ventricular septal defect
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
JMJD1C10q21.399.98%gene with protein product604503TRIP8Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
KIAA055616p12.1100%gene with protein productFormer name = KATNIP616650KATNIPAnteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Central hypothyroidism; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Episodic tachypnea; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Global developmental delay; Growth hormone deficiency; Hypertelorism; Inferior vermis hypoplasia; Intellectual disability; Long face; Micropenis; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Panhypopituitarism; Ptosis; Recurrent upper respiratory tract infections; Short stature
KIAA058614q23.195.7%gene with protein product610178Abnormality of eye movement; Abnormality of the pinna; Anencephaly; Aplastic clavicles; Apnea; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cleft palate; Congenital diaphragmatic hernia; Depressed nasal bridge; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hyporeflexia; Intellectual disability; Long face; Low-set ears; Micromelia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Nystagmus; Oculomotor apraxia; Polyhydramnios; Polymicrogyria; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Retinal coloboma; Short neck; Short ribs; TachypneaShort-Rib Thoracic Dysplasia
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
MAN1B19q34.3100%gene with protein product604346Aggressive behavior; Autosomal recessive inheritance; Broad eyebrow; Dolichocephaly; Downslanted palpebral fissures; Global developmental delay; Hypertelorism; Intellectual disability, moderate; Long eyebrows; Long face; Malar flattening; Pointed chin; Prominent nose; Seizures; Short philtrum; Smooth philtrum; Thin upper lip vermilion; Wide nasal bridge
MAP2K115q22.31100%gene with protein product176872PRKMK1Abnormal bleeding; Abnormal heart valve morphology; Abnormality of the palpebral fissures; Abnormality of the ulna; Abnormality of vision; Amegakaryocytic thrombocytopenia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Autosomal dominant inheritance; Biparietal narrowing; Brachydactyly; Brittle hair; Cavernous hemangioma; Clinodactyly; Coarctation of aorta; Coarse facial features; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Deep palmar crease; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; Heterogeneous; High forehead; High palate; High, narrow palate; Hyperextensible skin; Hyperhidrosis; Hyperkeratosis pilaris; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Micrognathia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Neurofibrosarcoma; Nystagmus; Palmoplantar keratoderma; Patent ductus arteriosus; Pectus excavatum; Pectus excavatum of inferior sternum; Postnatal growth retardation; Premature birth; Ptosis; Pulmonic stenosis; Radial deviation of finger; Reduced bone mineral density; Reduced factor XII activity; Reduced factor XIII activity; Scoliosis; Seizures; Sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Strabismus; Superior pectus carinatum; Synovitis; Thickened helices; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Webbed neck; Wide mouth
MAP2K219p13.3100%gene with protein product601263PRKMK2Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormal heart valve morphology; Abnormal ventricular septum morphology; Abnormality of lateral ventricle; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the sternum; Abnormality of the thorax; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Biparietal narrowing; Brittle hair; Cavernous hemangioma; Cerebellar hypoplasia; Coarse facial features; Congenital cataract; Cryptorchidism; Deep palmar crease; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dysphagia; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; High forehead; High palate; Hyperextensible skin; Hyperhidrosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Narrow forehead; Nystagmus; Optic nerve hypoplasia; Palmoplantar keratoderma; Pectus excavatum; Premature birth; Prolonged bleeding time; Ptosis; Pulmonic stenosis; Scoliosis; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Specific learning disability; Strabismus; Telecanthus; Thickened helices; Underdeveloped supraorbital ridges; Webbed neck
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MGP12p12.394.51%gene with protein product154870Autosomal recessive inheritance; Calcification of cartilage; Calcification of the auricular cartilage; Cartilaginous ossification of larynx; Cartilaginous ossification of nose; Cerebral calcification; Chronic sinusitis; Costal cartilage calcification; Deep philtrum; Depressed nasal bridge; Epiphyseal stippling; Global developmental delay; Growth abnormality; Hearing impairment; Intellectual disability, mild; Long face; Macrotia; Malar flattening; Midface retrusion; Nasal speech; Peripheral pulmonary artery stenosis; Premature fusion of phalangeal epiphyses; Pulmonary arterial hypertension; Pulmonary artery hypoplasia; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent bronchitis; Recurrent otitis media; Recurrent sinusitis; Seizures; Short distal phalanx of finger; Short hallux; Short thumb; Sloping forehead; Spontaneous abortion; Tracheal atresia; Underdeveloped nasal alae; Ventricular septal defect; Wide nose
MGP12p12.394.51%gene with protein product154870Autosomal recessive inheritance; Calcification of cartilage; Calcification of the auricular cartilage; Cartilaginous ossification of larynx; Cartilaginous ossification of nose; Cerebral calcification; Chronic sinusitis; Costal cartilage calcification; Deep philtrum; Depressed nasal bridge; Epiphyseal stippling; Global developmental delay; Growth abnormality; Hearing impairment; Intellectual disability, mild; Long face; Macrotia; Malar flattening; Midface retrusion; Nasal speech; Peripheral pulmonary artery stenosis; Premature fusion of phalangeal epiphyses; Pulmonary arterial hypertension; Pulmonary artery hypoplasia; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent bronchitis; Recurrent otitis media; Recurrent sinusitis; Seizures; Short distal phalanx of finger; Short hallux; Short thumb; Sloping forehead; Spontaneous abortion; Tracheal atresia; Underdeveloped nasal alae; Ventricular septal defect; Wide nose
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MMACHC1p34.1100%gene with protein product609831Abnormality of extrapyramidal motor function; Anorexia; Autosomal recessive inheritance; Cerebral cortical atrophy; Confusion; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dementia; Failure to thrive; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hematuria; Hemolytic-uremic syndrome; High forehead; Homocystinuria; Hydrocephalus; Hyperhomocystinemia; Hypomethioninemia; Infantile onset; Intellectual disability; Lethargy; Long face; Low-set ears; Macrotia; Megaloblastic anemia; Megaloblastic bone marrow; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Microcephaly; Nephropathy; Neutropenia; Nystagmus; Pallor; Pigmentary retinopathy; Proteinuria; Reduced visual acuity; Renal insufficiency; Retinopathy; Seizures; Smooth philtrum; Thrombocytopenia; Thromboembolism; Tremor; Visual impairment
MOCS16p21.2100%gene with protein product603707Absent urinary urothione; Aldehyde oxidase deficiency; Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Decreased urinary sulfate; Decreased urinary urate; Ectopia lentis; Feeding difficulties in infancy; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary sulfite; Increased urinary taurine; Increased urinary thiosulfate; Intellectual disability; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Reduced xanthine dehydrogenase activity; Seizures; Short nose; Spastic tetraparesis; Spastic tetraplegia; Sulfite oxidase deficiency; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
MOCS25q11.2100%gene with protein product603708Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Ectopia lentis; Feeding difficulties; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary taurine; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Short nose; Spastic tetraplegia; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
MTM1Xq2899.73%gene with protein product300415Arachnodactyly; Areflexia; Atrioventricular block; Birth length greater than 97th percentile; Cavernous hemangioma; Cryptorchidism; Decreased fetal movement; Decreased liver function; Diaphragmatic eventration; EMG abnormality; External ophthalmoplegia; Facial palsy; Flexion contracture; Gait disturbance; Generalized muscle weakness; Head tremor; High palate; Hydrocephalus; Hypokinesia; Long face; Macrocephaly; Mask-like facies; Muscular hypotonia; Narrow face; Neck muscle weakness; Neonatal respiratory distress; Polyhydramnios; Ptosis; Pyloric stenosis; Respiratory failure requiring assisted ventilation; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slender toe; X-linked recessive inheritanceRhabdomyolysis
MYH714q11.2100%gene with protein product160760CMH1, MPD1Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Amyotrophy of ankle musculature; Arrhythmia; Asymmetric septal hypertrophy; Atrial fibrillation; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Chest pain; Childhood onset; Congenital onset; Congestive heart failure; Decreased fetal movement; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Fatigue; Feeding difficulties; Gait disturbance; Generalized limb muscle atrophy; Generalized muscle weakness; Heterogeneous; High palate; Hypertrophic cardiomyopathy; Imperforate tricuspid valve; Infantile onset; Long face; Lumbar hyperlordosis; Mildly elevated creatine phosphokinase; Myalgia; Narrow face; Neck muscle weakness; Neonatal hypotonia; Onset; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Premature birth; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Right bundle branch block; Scapular winging; Scapuloperoneal amyotrophy; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Slow progression; Subvalvular aortic stenosis; Sudden death; Toe extensor amyotrophy; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Weakness of facial musculature; Weakness of long finger extensor muscles
NBAS2p24.399.99%gene with protein product608025Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Cutis laxa; Epicanthus; Facial asymmetry; Fine hair; Long face; Long philtrum; Micromelia; Muscular hypotonia; Narrow forehead; Nonprogressive visual loss; Optic atrophy; Postnatal growth retardation; Prominent glabella; Proptosis; Reduced visual acuity; Sandal gap; Short neck; Short stature; Thick eyebrow; Thin vermilion border
NFIX19p13.1393.01%gene with protein product164005Accelerated skeletal maturation; Advanced eruption of teeth; Agenesis of corpus callosum; Anteverted nares; Anxiety; Astigmatism; Atlantoaxial dislocation; Atrial septal defect; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Bruising susceptibility; Bullet-shaped middle phalanges of the hand; Cerebral atrophy; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Coxa valga; Cutis marmorata; Death in childhood; Decreased body weight; Delayed speech and language development; Depressed nasal bridge; Distal widening of metacarpals; Downslanted palpebral fissures; Eclabion; Everted lower lip vermilion; Failure to thrive; Frontal bossing; Generalized hirsutism; Generalized hypotonia; Gingival overgrowth; Glossoptosis; Hearing impairment; High forehead; Hypermetropia; Hypertelorism; Hypoplasia of the odontoid process; Increased susceptibility to fractures; Intellectual disability; Irregular dentition; Joint hyperflexibility; Large sternal ossification centers; Laryngomalacia; Long face; Long fingers; Low-set ears; Macrocephaly; Macrogyria; Malar flattening; Mandibular prognathia; Midface retrusion; Motor delay; Narrow face; Narrow mouth; Nystagmus; Obstructive sleep apnea; Omphalocele; Open mouth; Overfolded helix; Overgrowth; Patent ductus arteriosus; Pectus excavatum; Prominence of the premaxilla; Prominent forehead; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Reduced bone mineral density; Retrognathia; Scoliosis; Shallow orbits; Short distal phalanx of finger; Short mandibular rami; Short nose; Short philtrum; Short sternum; Slender long bone; Sporadic; Strabismus; Synophrys; Tall stature; Thick eyebrow; Thin skin; Umbilical hernia; Ventriculomegaly
NHSXp22.2-p22.1100%gene with protein product300457Autism; Broad finger; Cataract; Congenital cataract; Congenital nuclear cataract; Diastema; Glaucoma; Increased number of teeth; Intellectual disability; Long face; Macrotia; Mandibular prognathia; Microcornea; Microphthalmia; Narrow face; Nystagmus; Posterior Y-sutural cataract; Prominent nasal bridge; Prominent nose; Protruding ear; Screwdriver-shaped incisors; Severe visual impairment; Short metacarpal; Short phalanx of finger; Strabismus; Supernumerary maxillary incisor; Sutural cataract; Visual impairment; Visual loss; X-linked dominant inheritance; X-linked inheritance
NHSXp22.2-p22.1100%gene with protein product300457Autism; Broad finger; Cataract; Congenital cataract; Congenital nuclear cataract; Diastema; Glaucoma; Increased number of teeth; Intellectual disability; Long face; Macrotia; Mandibular prognathia; Microcornea; Microphthalmia; Narrow face; Nystagmus; Posterior Y-sutural cataract; Prominent nasal bridge; Prominent nose; Protruding ear; Screwdriver-shaped incisors; Severe visual impairment; Short metacarpal; Short phalanx of finger; Strabismus; Supernumerary maxillary incisor; Sutural cataract; Visual impairment; Visual loss; X-linked dominant inheritance; X-linked inheritance
NONOXq13.1100%gene with protein product300084Aggressive behavior; Ataxia; Dental crowding; Frontal bossing; Generalized hypotonia; Hallux valgus; High, narrow palate; Increased head circumference; Intellectual disability; Joint laxity; Kyphosis; Left ventricular noncompaction; Long face; Malar flattening; Mild global developmental delay; Motor delay; Myopia; Narrow mouth; Nasal speech; Neonatal hypotonia; Open mouth; Patent ductus arteriosus; Patent foramen ovale; Perseveration; Pes planus; Prominent nose; Right ventricular hypertrophy; Scoliosis; Seizures; Slender build; Strabismus; Thickened calvaria; Tremor; Upslanted palpebral fissure; Ventricular septal defect; X-linked recessive inheritance
NPHP12q1398.95%gene with protein product607100NPH1Abnormal electroretinogram; Abnormality of retinal pigmentation; Anemia; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cognitive impairment; Delayed gross motor development; Elongated superior cerebellar peduncle; Feeding difficulties; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Heterogeneous; Hypertension; Hypogonadism; Hypometric saccades; Hypoplasia of penis; Hypoplasia of the ovary; Hyposthenuria; Intellectual disability; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Pigmentary retinopathy; Polydipsia; Polyuria; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Renal corticomedullary cysts; Renal insufficiency; Retinal dystrophy; Short stature; Stage 5 chronic kidney disease; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Tubulointerstitial fibrosis; Visual impairmentHeterotaxy ; Nephrotic Syndrome
NSDHLXq28100%gene with protein product300275Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormality of digit; Abnormality of the nail; Aggressive behavior; Almond-shaped palpebral fissure; Aplasia/hypoplasia of the extremities; Cleft upper lip; Congenital ichthyosiform erythroderma; Delayed speech and language development; Dental crowding; Epicanthus; Epiphyseal stippling; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydronephrosis; Hyperactivity; Hyperkeratosis; Hyperlordosis; Hypoplastic pelvis; Intellectual disability; Intellectual disability, mild; Irritability; Joint hypermobility; Kyphosis; Long face; Malar flattening; Microcephaly; Micrognathia; Mild intrauterine growth retardation; Narrow face; Pachygyria; Parakeratosis; Polymicrogyria; Posteriorly rotated ears; Prominent nasal bridge; Retrognathia; Scoliosis; Seizures; Single ventricle; Sleep disturbance; Slender build; Strabismus; Umbilical hernia; Upslanted palpebral fissure; X-linked dominant inheritance; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
NSUN25p15.31100%gene with protein product610916MRT5Abnormality of female external genitalia; Abnormality of the antihelix; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blepharophimosis; Broad thumb; Clinodactyly of the 5th finger; Cryptorchidism; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dysarthria; Eczema; Epicanthus; Fine hair; Global developmental delay; Hearing impairment; Hyperreflexia; Hypertelorism; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Long face; Low anterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Short chin; Short foot; Short philtrum; Short stature; Sloping forehead; Small for gestational age; Small hand; Smooth philtrum; Sparse lateral eyebrow; Sparse scalp hair; Spasticity; Strabismus; Submucous cleft hard palate; Synophrys; Telecanthus; Thick eyebrow; Thick upper lip vermilion; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide anterior fontanel
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
OTUD6B8q21.399.96%gene with protein product612021Autistic behavior; Autosomal recessive inheritance; Brachycephaly; Broad thumb; Cryptorchidism; Downslanted palpebral fissures; Failure to thrive; Feeding difficulties; Flat occiput; Flexion contracture; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Highly arched eyebrow; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability, severe; Intrauterine growth retardation; Long eyelashes; Long face; Long palpebral fissure; Long philtrum; Low-set ears; Macrotia; Microcephaly; Overlapping toe; Phenotypic variability; Prominent nasal bridge; Protruding ear; Retrognathia; Sacral dimple; Scoliosis; Short neck; Short stature; Spastic tetraplegia; Talipes equinovarus; Tapered finger; Thin upper lip vermilion; Ventriculomegaly; Wide nasal bridge
PHF8Xp11.2299.9%gene with protein product300560Broad nasal tip; Cleft upper lip; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Intellectual disability; Intellectual disability, mild; Large hands; Long face; Long toe; Low posterior hairline; Nasal speech; Pes planus; Prominent supraorbital ridges; Sloping forehead; Synophrys; Thoracic kyphosis; Upslanted palpebral fissure; X-linked recessive inheritance
PHF8Xp11.2299.9%gene with protein product300560Broad nasal tip; Cleft upper lip; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Intellectual disability; Intellectual disability, mild; Large hands; Long face; Long toe; Low posterior hairline; Nasal speech; Pes planus; Prominent supraorbital ridges; Sloping forehead; Synophrys; Thoracic kyphosis; Upslanted palpebral fissure; X-linked recessive inheritance
PIBF113q21.33-q2299.97%gene with protein product607532C13orf24Apnea; Ataxia; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
POC1A3p21.2100%gene with protein product614783WDR51AAutosomal recessive inheritance; Brachydactyly; Clinodactyly; Cone-shaped epiphysis; Disproportionate short stature; High pitched voice; Hypoplastic pelvis; Hypoplastic sacrum; Long face; Macrocephaly; Mandibular prognathia; Microcephaly; Microtia; Nail dysplasia; Oligospermia; Pointed chin; Prominent forehead; Prominent nose; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short metatarsal; Small for gestational age; Small hand; Small nail; Sparse hair; Triangular face; Waddling gaitHeterotaxy
PQBP1Xp11.2399.83%gene with protein product300463RENS1, MRXS8, SHS, MRX55, MRX2, MRXS3Abnormality of the rib cage; Anal atresia; Anxiety; Arachnodactyly; Atrial septal defect; Blindness; Brachycephaly; Brittle hair; Bulbous nose; Camptodactyly; Cataract; Cerebral atrophy; Cleft palate; Clinodactyly of the 5th finger; Coloboma; Cupped ear; Death in infancy; Decreased testicular size; Dry hair; Epicanthus; Global developmental delay; Hearing impairment; High palate; Hypermetropia; Hyperreflexia; Hypospadias; Intellectual disability; Joint contracture of the hand; Long face; Macroglossia; Macrotia; Malar flattening; Mandibular prognathia; Microcephaly; Micrognathia; Nail dystrophy; Narrow face; Narrow foot; Narrow mouth; Nasal speech; Pectus excavatum; Pes cavus; Phimosis; Poor suck; Protruding ear; Scoliosis; Seizures; Short philtrum; Short stature; Situs inversus totalis; Sparse hair; Sparse lateral eyebrow; Spastic diplegia; Spasticity; Strabismus; Tetralogy of Fallot; Thin upper lip vermilion; Triangular face; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritanceHeterotaxy
PQBP1Xp11.2399.83%gene with protein product300463RENS1, MRXS8, SHS, MRX55, MRX2, MRXS3Abnormality of the rib cage; Anal atresia; Anxiety; Arachnodactyly; Atrial septal defect; Blindness; Brachycephaly; Brittle hair; Bulbous nose; Camptodactyly; Cataract; Cerebral atrophy; Cleft palate; Clinodactyly of the 5th finger; Coloboma; Cupped ear; Death in infancy; Decreased testicular size; Dry hair; Epicanthus; Global developmental delay; Hearing impairment; High palate; Hypermetropia; Hyperreflexia; Hypospadias; Intellectual disability; Joint contracture of the hand; Long face; Macroglossia; Macrotia; Malar flattening; Mandibular prognathia; Microcephaly; Micrognathia; Nail dystrophy; Narrow face; Narrow foot; Narrow mouth; Nasal speech; Pectus excavatum; Pes cavus; Phimosis; Poor suck; Protruding ear; Scoliosis; Seizures; Short philtrum; Short stature; Situs inversus totalis; Sparse hair; Sparse lateral eyebrow; Spastic diplegia; Spasticity; Strabismus; Tetralogy of Fallot; Thin upper lip vermilion; Triangular face; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritanceHeterotaxy
RAPSN11p11.2100%gene with protein product601592Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Congenital onset; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Feeding difficulties; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Long face; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neonatal hypotonia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
RECQL48q24.399.97%gene with protein product603780Abnormal heart morphology; Abnormal vertebral morphology; Abnormality of the carpal bones; Abnormality of the kidney; Abnormality of the metacarpal bones; Abnormality of the nail; Absent eyebrow; Absent eyelashes; Absent radius; Absent thumb; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Anal atresia; Annular pancreas; Anomalous splenoportal venous system; Anteriorly placed anus; Aphalangy of the hands; Aplasia of metacarpal bones; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Autosomal recessive inheritance; Basal cell carcinoma; Bicoronal synostosis; Bifid uvula; Blepharophimosis; Bowing of the long bones; Brachyturricephaly; Brittle hair; Carpal bone aplasia; Carpal synostosis; Cataract; Choanal stenosis; Cleft palate; Concave nasal ridge; Conductive hearing impairment; Coronal craniosynostosis; Cryptorchidism; Cutaneous photosensitivity; Delayed eruption of teeth; Dermal atrophy; Diarrhea; Downslanted palpebral fissures; Epicanthus; Failure to thrive in infancy; Flat forehead; Forearm reduction defects; Frontal bossing; Glaucoma; Growth delay; Hand oligodactyly; Hearing impairment; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the radius; Hypoplasia of the ulna; Hypotrichosis; Increased number of teeth; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Juvenile zonular cataracts; Lambdoidal craniosynostosis; Large fontanelles; Limited elbow movement; Limited shoulder movement; Long face; Low-set, posteriorly rotated ears; Malabsorption; Mandibular prognathia; Microcornea; Microdontia; Micrognathia; Microphthalmia; Midface capillary hemangioma; Mottled pigmentation; Myopia; Nail dystrophy; Narrow mouth; Optic atrophy; Osteoporosis; Osteosarcoma; Palmoplantar keratoderma; Patellar hypoplasia; Perineal fistula; Poikiloderma; Polymicrogyria; Premature graying of hair; Prematurely aged appearance; Prominent nasal bridge; Proptosis; Rectovaginal fistula; Rib fusion; Sagittal craniosynostosis; Scoliosis; Seizures; Short chin; Short foot; Short humerus; Short nose; Short palm; Short stature; Short thumb; Skeletal dysplasia; Slender nose; Small hand; Sparse hair; Spina bifida occulta; Squamous cell carcinoma; Stiff interphalangeal joints; Strabismus; Talipes equinovarus; Telangiectasia; Ulnar bowing; Underdeveloped nasal alaeVACTERL Association
RPGRIP1L16q12.296.43%gene with protein product610937Abnormal chorioretinal morphology; Abnormality of the corpus callosum; Abnormality of the urinary system; Anencephaly; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Cleft upper lip; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Renal insufficiency; Retinal dystrophy; Round face; Sclerocornea; Scoliosis; Sloping forehead; Spasticity; Splenomegaly; Talipes; Visual impairment; Wide mouthHeterotaxy
RPGRIP1L16q12.296.43%gene with protein product610937Abnormal chorioretinal morphology; Abnormality of the corpus callosum; Abnormality of the urinary system; Anencephaly; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Cleft upper lip; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Renal insufficiency; Retinal dystrophy; Round face; Sclerocornea; Scoliosis; Sloping forehead; Spasticity; Splenomegaly; Talipes; Visual impairment; Wide mouthHeterotaxy
RREB16p24.3100%gene with protein product602209Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
RYR119q13.299.99%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
SATB22q33.199.98%gene with protein product608148Aggressive behavior; Arachnodactyly; Autosomal dominant inheritance; Broad-based gait; Bulbous nose; Camptodactyly; Cleft palate; Conical tooth; Delayed speech and language development; Dental crowding; Downslanted palpebral fissures; Feeding difficulties; Fine hair; Frontal bossing; Global developmental delay; Happy demeanor; High forehead; High palate; Hyperactivity; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Long face; Long nose; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Nail dysplasia; Narrow mouth; Narrow nose; Oligodontia; Prominent nasal bridge; Seizures; Short stature; Smooth philtrum; Sparse hair; Talipes equinovarus; Thin skin; Thin vermilion border
SEC24C10q22.2100%gene with protein product607185Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
SELENON1p36.1191.56%gene with protein productFormer name = SEPN1606210RSMD1, MDRS1, SEPN1Abnormality of the rib cage; Abnormality on pulmonary function testing; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Dysphagia; Elbow flexion contracture; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Hamstring contractures; Heterogeneous; High palate; High pitched voice; Hip contracture; Hyperlordosis; Hyporeflexia; Increased variability in muscle fiber diameter; Infantile onset; Limited neck flexion; Long face; Lumbar hyperlordosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myopathy; Narrow face; Nasal speech; Neck muscle weakness; Neonatal hypotonia; Nocturnal hypoventilation; Nonprogressive; Pectus excavatum; Pneumonia; Poor head control; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restrictive deficit on pulmonary function testing; Scoliosis; Short stature; Skeletal muscle atrophy; Spinal rigidity; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cry
SETBP118q12.399.32%gene with protein product611060Abnormality of the nasopharynx; Absent speech; Anteverted nares; Aplasia/Hypoplasia of the pubic bone; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicornuate uterus; Brachycephaly; Broad ribs; Cerebral atrophy; Choanal stenosis; Coarse facial features; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Facial hemangioma; Failure to thrive; Hepatoblastoma; High forehead; High palate; Hydronephrosis; Hydroureter; Hyperconvex nail; Hypertelorism; Hypertrichosis; Hypoplasia of first ribs; Hypoplasia of the corpus callosum; Hypoplastic labia majora; Hypoplastic labia minora; Hypoplastic nipples; Hypospadias; Hypsarrhythmia; Increased density of long bones; Intellectual disability; Long clavicles; Long face; Low-set ears; Macroglossia; Malar flattening; Metopic suture patent to nasal root; Micropenis; Midface retrusion; Motor delay; Narrow palate; Opisthotonus; Pointed chin; Postaxial hand polydactyly; Postnatal growth retardation; Prominent forehead; Ptosis; Sacrococcygeal teratoma; Sclerosis of skull base; Scrotal hypoplasia; Seizures; Shallow orbits; Short 1st metacarpal; Short distal phalanx of finger; Short neck; Short nose; Short sternum; Single transverse palmar crease; Sloping forehead; Synophrys; Talipes equinovarus; Thickened cortex of long bones; Thin upper lip vermilion; Tibial bowing; Ureteral stenosis; Ventriculomegaly; Wide distal femoral metaphysis; Widely patent fontanelles and sutures; Wormian bonesDisorders of Sex Development
SETD23p21.3199.97%gene with protein product612778Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Advanced ossification of carpal bones; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arnold-Chiari malformation; Autistic behavior; Autosomal dominant inheritance; Conductive hearing impairment; Delayed speech and language development; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; High anterior hairline; High forehead; High palate; Hirsutism; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Long foot; Long nose; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Menstrual irregularities; Muscular hypotonia; Obesity; Overgrowth; Phenotypic variability; Pointed chin; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent forehead; Recurrent otitis media; Seizures; Short stature; Shyness; Slurred speech; Syringomyelia; Tall stature; VentriculomegalyObesity
SIN3A15q24.299.99%gene with protein product607776Abnormality of cardiovascular system morphology; Abnormality of the outer ear; Abnormality of the thorax; Abnormality of the voice; Aggressive behavior; Anisocoria; Anteverted nares; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Cafe-au-lait spot; Clinodactyly; Congenital diaphragmatic hernia; Conspicuously happy disposition; Cryptorchidism; Cupped ear; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Dysplastic corpus callosum; Epicanthus; Facial asymmetry; Feeding difficulties in infancy; Fine hair; Flared nostrils; Gastrointestinal atresia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hearing impairment; High anterior hairline; High forehead; High palate; High, narrow palate; Highly arched eyebrow; Hyperactivity; Hypermetropia; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal atresia; Intrauterine growth retardation; Iris coloboma; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Medial flaring of the eyebrow; Microcephaly; Micropenis; Microphallus; Microphthalmia; Microretrognathia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obesity; Open mouth; Phenotypic variability; Polyhydramnios; Prominent nasal bridge; Proximal placement of thumb; Radial deviation of finger; Recurrent infections; Scoliosis; Short nose; Short palm; Short stature; Short thumb; Single transverse palmar crease; Sleep disturbance; Small for gestational age; Smooth philtrum; Sparse and thin eyebrow; Sporadic; Strabismus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; Wide nose; Widely spaced teeth
SIN3A15q24.299.99%gene with protein product607776Abnormality of cardiovascular system morphology; Abnormality of the outer ear; Abnormality of the thorax; Abnormality of the voice; Aggressive behavior; Anisocoria; Anteverted nares; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Cafe-au-lait spot; Clinodactyly; Congenital diaphragmatic hernia; Conspicuously happy disposition; Cryptorchidism; Cupped ear; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Dysplastic corpus callosum; Epicanthus; Facial asymmetry; Feeding difficulties in infancy; Fine hair; Flared nostrils; Gastrointestinal atresia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hearing impairment; High anterior hairline; High forehead; High palate; High, narrow palate; Highly arched eyebrow; Hyperactivity; Hypermetropia; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal atresia; Intrauterine growth retardation; Iris coloboma; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Medial flaring of the eyebrow; Microcephaly; Micropenis; Microphallus; Microphthalmia; Microretrognathia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obesity; Open mouth; Phenotypic variability; Polyhydramnios; Prominent nasal bridge; Proximal placement of thumb; Radial deviation of finger; Recurrent infections; Scoliosis; Short nose; Short palm; Short stature; Short thumb; Single transverse palmar crease; Sleep disturbance; Small for gestational age; Smooth philtrum; Sparse and thin eyebrow; Sporadic; Strabismus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; Wide nose; Widely spaced teeth
SIX114q23.1100%gene with protein product601205DFNA23Abnormality of the cerebrum; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Commissural lip pit; Conductive hearing impairment; Congenital hip dislocation; Dilatated internal auditory canal; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intestinal malrotation; Lacrimal duct stenosis; Long face; Microdontia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Sensorineural hearing impairment; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
SLC12A615q1499.94%gene with protein product604878KCC3, ACCPN2-3 toe syndactyly; Agenesis of corpus callosum; Aqueductal stenosis; Areflexia; Autosomal recessive inheritance; Axonal degeneration/regeneration; Brachycephaly; Decreased motor nerve conduction velocity; Decreased sensory nerve conduction velocity; EEG abnormality; EMG: chronic denervation signs; Facial asymmetry; Facial diplegia; Flexion contracture; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; High palate; Hypertelorism; Hypoplasia of the maxilla; Increased CSF protein; Intellectual disability; Limb muscle weakness; Limb tremor; Long face; Low anterior hairline; Macrotia; Microcephaly; Motor delay; Motor polyneuropathy; Narrow forehead; Neonatal hypotonia; Onion bulb formation; Peripheral axonal neuropathy; Polyneuropathy; Progressive; Psychosis; Ptosis; Respiratory tract infection; Restrictive deficit on pulmonary function testing; Scoliosis; Seizures; Sensory neuropathy; Short nose; Skeletal muscle atrophy; Tapered finger; Ventriculomegaly; Wide nasal bridge
SLC2A1020q13.12100%gene with protein product606145Abnormal carotid artery morphology; Abnormal thrombosis; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic tortuosity; Aortic valve stenosis; Arachnodactyly; Arterial stenosis; Autosomal recessive inheritance; Blepharophimosis; Bruising susceptibility; Congenital diaphragmatic hernia; Congenital onset; Congestive heart failure; Convex nasal ridge; Craniosynostosis; Cutis laxa; Downslanted palpebral fissures; Fatigue; Femoral hernia; Flexion contracture; Generalized arterial tortuosity; Generalized hypotonia; Hiatus hernia; High palate; Hyperextensible skin; Hypertelorism; Hypertension; Inguinal hernia; Ischemic stroke; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Median cleft lip and palate; Micrognathia; Pectus carinatum; Pectus excavatum; Pulmonary artery stenosis; Soft, doughy skin; Telangiectases of the cheeks; Telangiectasia of the skin; Thin skin; Umbilical hernia; Ventricular hypertrophy
SLC2A1020q13.12100%gene with protein product606145Abnormal carotid artery morphology; Abnormal thrombosis; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic tortuosity; Aortic valve stenosis; Arachnodactyly; Arterial stenosis; Autosomal recessive inheritance; Blepharophimosis; Bruising susceptibility; Congenital diaphragmatic hernia; Congenital onset; Congestive heart failure; Convex nasal ridge; Craniosynostosis; Cutis laxa; Downslanted palpebral fissures; Fatigue; Femoral hernia; Flexion contracture; Generalized arterial tortuosity; Generalized hypotonia; Hiatus hernia; High palate; Hyperextensible skin; Hypertelorism; Hypertension; Inguinal hernia; Ischemic stroke; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Median cleft lip and palate; Micrognathia; Pectus carinatum; Pectus excavatum; Pulmonary artery stenosis; Soft, doughy skin; Telangiectases of the cheeks; Telangiectasia of the skin; Thin skin; Umbilical hernia; Ventricular hypertrophy
SLC6A8Xq2899.65%gene with protein product300036Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Aganglionic megacolon; Aggressive behavior; Ataxia; Athetosis; Attention deficit hyperactivity disorder; Autistic behavior; Broad forehead; Cachexia; Chorea; Constipation; Delayed myelination; Delayed speech and language development; Dystonia; Exotropia; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Hypertonia; Hypoplasia of the corpus callosum; Ileus; Impaired social interactions; Infantile onset; Intellectual disability; Joint hypermobility; Long face; Malar flattening; Mandibular prognathia; Microcephaly; Midface retrusion; Motor delay; Muscular hypotonia; Myopathic facies; Narrow face; Neonatal hypotonia; Open mouth; Pes cavus; Poor hand-eye coordination; Ptosis; Seizures; Self-mutilation; Short stature; Spasticity; Stereotypy; Tall stature; Underfolded superior helices; Vomiting; X-linked recessive inheritance
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
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
SNAP2922q11.21100%gene with protein product604202Abnormality of eye movement; Abnormality of peripheral nerve conduction; Abnormality of the corpus callosum; Areflexia; Ataxia; Autosomal recessive inheritance; Cortical dysplasia; Depressed nasal bridge; Diffuse palmoplantar keratoderma; Downslanted palpebral fissures; Failure to thrive; Global developmental delay; Hypertelorism; Ichthyosis; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Long face; Microcephaly; Muscular hypotonia; Optic atrophy; Optic disc hypoplasia; Pachygyria; Palmoplantar keratoderma; Peripheral neuropathy; Polymicrogyria; Polyneuropathy; Poor head control; Progressive microcephaly; Prominent nasal bridge; Sensorineural hearing impairment; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
SNAP2922q11.21100%gene with protein product604202Abnormality of eye movement; Abnormality of peripheral nerve conduction; Abnormality of the corpus callosum; Areflexia; Ataxia; Autosomal recessive inheritance; Cortical dysplasia; Depressed nasal bridge; Diffuse palmoplantar keratoderma; Downslanted palpebral fissures; Failure to thrive; Global developmental delay; Hypertelorism; Ichthyosis; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Long face; Microcephaly; Muscular hypotonia; Optic atrophy; Optic disc hypoplasia; Pachygyria; Palmoplantar keratoderma; Peripheral neuropathy; Polymicrogyria; Polyneuropathy; Poor head control; Progressive microcephaly; Prominent nasal bridge; Sensorineural hearing impairment; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
TCTN112q24.1199.39%gene with protein product609863Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxiaHeterotaxy
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TMEM13811q12.299.95%gene with protein product614459Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Coloboma; Global developmental delay; Intellectual disability; Iris coloboma; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Muscular hypotonia; Nephropathy; Nystagmus; Oculomotor apraxia; Ptosis; Retinal dystrophy; TachypneaHeterotaxy
TMEM21611q13.1100%gene with protein product613277CORS2, MKS2Abnormal chorioretinal morphology; Abnormal renal physiology; Abnormality of saccadic eye movements; Abnormality of the corpus callosum; Abnormality of the foot; Agenesis of cerebellar vermis; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Dysgenesis of the cerebellar vermis; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Esotropia; Failure to thrive; Frontal bossing; Full cheeks; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydrocephalus; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic male external genitalia; Impaired smooth pursuit; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Meningocele; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal cyst; Retinal dystrophy; Sclerocornea; Sloping forehead; Tachypnea; Talipes; Thickened superior cerebellar peduncle; Visual impairmentHeterotaxy
TMEM23116q23.199.51%gene with protein product614949Abnormal chorioretinal morphology; Absent speech; Aggressive behavior; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Global developmental delay; Hypertelorism; Intellectual disability; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Respiratory insufficiency; Retinal dystrophy; Sclerocornea; Self-mutilation; Sloping forehead; Tachypnea; TalipesHeterotaxy
TMEM2372q33.1100%gene with protein product614423ALS2CR4Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Coloboma; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Encephalocele; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; High forehead; Highly arched eyebrow; Hydrocephalus; Hypertelorism; Hypertension; Intellectual disability; Intellectual disability, severe; Iris coloboma; Irritability; Long face; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Microphthalmia; Molar tooth sign on MRI; Morning glory anomaly; Muscular hypotonia; Nephropathy; Nystagmus; Oculomotor apraxia; Open mouth; Postaxial polydactyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Renal cyst; Retinal dystrophy; Short philtrum; Strabismus; Tachypnea; Tented upper lip vermilionHeterotaxy
TMEM2372q33.1100%gene with protein product614423ALS2CR4Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Coloboma; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Encephalocele; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; High forehead; Highly arched eyebrow; Hydrocephalus; Hypertelorism; Hypertension; Intellectual disability; Intellectual disability, severe; Iris coloboma; Irritability; Long face; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Microphthalmia; Molar tooth sign on MRI; Morning glory anomaly; Muscular hypotonia; Nephropathy; Nystagmus; Oculomotor apraxia; Open mouth; Postaxial polydactyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Renal cyst; Retinal dystrophy; Short philtrum; Strabismus; Tachypnea; Tented upper lip vermilionHeterotaxy
TMEM2372q33.1100%gene with protein product614423ALS2CR4Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Coloboma; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Encephalocele; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; High forehead; Highly arched eyebrow; Hydrocephalus; Hypertelorism; Hypertension; Intellectual disability; Intellectual disability, severe; Iris coloboma; Irritability; Long face; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Microphthalmia; Molar tooth sign on MRI; Morning glory anomaly; Muscular hypotonia; Nephropathy; Nystagmus; Oculomotor apraxia; Open mouth; Postaxial polydactyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Renal cyst; Retinal dystrophy; Short philtrum; Strabismus; Tachypnea; Tented upper lip vermilionHeterotaxy
TMEM678q22.199.95%gene with protein product609884MKS3Abnormal chorioretinal morphology; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Breathing dysregulation; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Polydactyly; Polydipsia; Polyuria; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal corticomedullary cysts; Renal insufficiency; Retinal degeneration; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Stage 5 chronic kidney disease; Talipes; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Visual impairment; Wide mouthBardet-Biedl Syndrome ; Heterotaxy
TMEM678q22.199.95%gene with protein product609884MKS3Abnormal chorioretinal morphology; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Breathing dysregulation; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Polydactyly; Polydipsia; Polyuria; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal corticomedullary cysts; Renal insufficiency; Retinal degeneration; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Stage 5 chronic kidney disease; Talipes; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Visual impairment; Wide mouthBardet-Biedl Syndrome ; Heterotaxy
TPM29p13.3100%gene with protein product190990AMCD1Abnormality of the ear; Abnormality of the hip bone; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bulbar palsy; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Decreased fetal movement; Difficulty walking; Dilated cardiomyopathy; Distal arthrogryposis; Downslanted palpebral fissures; Dysphagia; Elbow flexion contracture; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; Gowers sign; Heterogeneous; High palate; Hyporeflexia; Joint stiffness; Kyphoscoliosis; Limb muscle weakness; Long face; Long philtrum; Lumbar hyperlordosis; Mandibular prognathia; Metatarsus adductus; Micrognathia; Motor delay; Muscular hypotonia; Myopathic facies; Myopathy; Narrow face; Narrow mouth; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Overlapping fingers; Pectus excavatum; Prominent nasolabial fold; Protruding ear; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Round ear; Scapular winging; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Talipes; Talipes equinovarus; Tarsal synostosis; Triangular face; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Variable expressivity; Vertebral segmentation defect; Waddling gait; Weak cry; Webbed neck; Wide nasal bridgeRhabdomyolysis
TPM31q21.3100%gene with protein product191030NEM1Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Dysphagia; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Juvenile onset; Long face; Lumbar hyperlordosis; Motor delay; Muscular hypotonia; Myopathy; Narrow face; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Shoulder girdle muscle atrophy; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cryRhabdomyolysis
TPM31q21.3100%gene with protein product191030NEM1Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Dysphagia; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Juvenile onset; Long face; Lumbar hyperlordosis; Motor delay; Muscular hypotonia; Myopathy; Narrow face; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Shoulder girdle muscle atrophy; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cryRhabdomyolysis
UBE3B12q24.11100%gene with protein product608047Absent eyebrow; Arachnodactyly; Autosomal recessive inheritance; Bell-shaped thorax; Blepharophimosis; Brachycephaly; Carious teeth; Clinodactyly of the 5th finger; Clitoral hypertrophy; Constipation; Diastema; Epicanthus; Failure to thrive; Feeding difficulties; Flat occiput; Generalized hypotonia; Global developmental delay; Growth delay; High palate; High, narrow palate; Intellectual disability; Laryngeal stridor; Long face; Long foot; Long palm; Metatarsus adductus; Microcephaly; Microcornea; Microdontia; Micrognathia; Muscle flaccidity; Myopia; Narrow face; Narrow palm; Neonatal respiratory distress; Nystagmus; Optic atrophy; Optic disc pallor; Ovoid vertebral bodies; Preauricular skin tag; Ptosis; Respiratory distress; Respiratory failure; Retrognathia; Short nose; Short palpebral fissure; Short philtrum; Single transverse palmar crease; Smooth philtrum; Sparse and thin eyebrow; Specific learning disability; Strabismus; Telecanthus; Thin eyebrow; Thin upper lip vermilion; Thin vermilion border; Upslanted palpebral fissure; Wide mouth
UBE3B12q24.11100%gene with protein product608047Absent eyebrow; Arachnodactyly; Autosomal recessive inheritance; Bell-shaped thorax; Blepharophimosis; Brachycephaly; Carious teeth; Clinodactyly of the 5th finger; Clitoral hypertrophy; Constipation; Diastema; Epicanthus; Failure to thrive; Feeding difficulties; Flat occiput; Generalized hypotonia; Global developmental delay; Growth delay; High palate; High, narrow palate; Intellectual disability; Laryngeal stridor; Long face; Long foot; Long palm; Metatarsus adductus; Microcephaly; Microcornea; Microdontia; Micrognathia; Muscle flaccidity; Myopia; Narrow face; Narrow palm; Neonatal respiratory distress; Nystagmus; Optic atrophy; Optic disc pallor; Ovoid vertebral bodies; Preauricular skin tag; Ptosis; Respiratory distress; Respiratory failure; Retrognathia; Short nose; Short palpebral fissure; Short philtrum; Single transverse palmar crease; Smooth philtrum; Sparse and thin eyebrow; Specific learning disability; Strabismus; Telecanthus; Thin eyebrow; Thin upper lip vermilion; Thin vermilion border; Upslanted palpebral fissure; Wide mouth
UFD122q11.21100%gene with protein product601754UFD1LAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
UPF3BXq2499.88%gene with protein product300298MRX62, UPF3BP1, UPF3BP2, UPF3BP3Abnormality of the musculature; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Disproportionate tall stature; Frontal bossing; Growth abnormality; High forehead; High palate; Hypoplasia of the maxilla; Intellectual disability; Joint hyperflexibility; Kyphosis; Long face; Long foot; Macrocephaly; Macroorchidism; Mandibular prognathia; Micrognathia; Muscular hypotonia; Narrow chest; Narrow face; Nasal speech; Neurological speech impairment; Pectus carinatum; Pectus excavatum; Prominent forehead; Prominent nasal bridge; Scoliosis; Short philtrum; X-linked recessive inheritance
XRCC45q14.2100%gene with protein product194363Abnormality of chromosome stability; Abnormality of lipid metabolism; Acanthosis nigricans; Acute leukemia; Autosomal recessive inheritance; Biparietal narrowing; Bird-like facies; Brachycephaly; Broad nasal tip; Broad-based gait; Cerebellar vermis atrophy; Cognitive impairment; Convex nasal ridge; Cortical gyral simplification; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Delayed speech and language development; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysmetria; Ectopic kidney; Epicanthus; Erythema; Global developmental delay; Growth delay; Hepatic steatosis; High forehead; High pitched voice; Hypertriglyceridemia; Hypotelorism; Hypothyroidism; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Limb undergrowth; Long face; Long nose; Low anterior hairline; Lymphoma; Lymphopenia; Malar prominence; Microcephaly; Micrognathia; Micropenis; Misalignment of teeth; Nystagmus; Pancytopenia; Primary gonadal insufficiency; Prominent nasal bridge; Renal hypoplasia; Sensory neuropathy; Severe combined immunodeficiency; Severe short-limb dwarfism; Short chin; Short stature; Sloping forehead; Telecanthus; Thin vermilion border; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridgeObesity
ZNF42316q12.1100%gene with protein product604557Apnea; Ataxia; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Global developmental delay; Intellectual disability; Iris coloboma; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Phenotypic variability; Polycystic kidney dysplasia; Ptosis; Retinal dystrophy; TachypneaHeterotaxy


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome