XomeDxSlice Tool

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

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Phenotypes
Telecanthus

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ACTG117q25.3100%gene with protein product102560ACTG, DFNA20, DFNA26Abnormality of the pinna; Aphasia; Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Cerebral cortical hemiatrophy; Coarse facial features; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Failure to thrive; Feeding difficulties; Full cheeks; Global developmental delay; Growth delay; Heterochromia iridis; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypertelorism; Intellectual disability; Iris coloboma; Joint stiffness; Large fontanelles; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Macrogyria; Microcephaly; Micrognathia; Mutism; Osteochondrosis; Pachygyria; Pointed chin; Polymicrogyria; Progressive sensorineural hearing impairment; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Seizures; Short columella; Short neck; Skeletal dysplasia; Specific learning disability; Subcortical cerebral atrophy; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose; Young adult onset
ADAMTS1816q23.1100%gene with protein product607512ADAMTS21Autosomal recessive inheritance; Broad nasal tip; Microcornea; Posteriorly rotated ears; Telecanthus; Wide nose
AKT31q43-q4499.89%gene with protein product611223Abnormal localization of kidney; Abnormal nasal morphology; Autosomal dominant inheritance; Cutis marmorata; Depressed nasal bridge; Hemimegalencephaly; High forehead; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Macrocephaly; Megalencephaly; Mitral regurgitation; Narrow mouth; Polymicrogyria; Postaxial hand polydactyly; Seizures; Telecanthus; Ventricular septal defect; Ventriculomegaly
ALG911q23.1100%gene with protein product606941DIBD1Abnormal heart morphology; Abnormal lung lobation; Autosomal recessive inheritance; Brachycephaly; Cognitive impairment; Congenital diaphragmatic hernia; Congenital onset; Convex nasal ridge; Delayed CNS myelination; Esotropia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global brain atrophy; Global developmental delay; Hepatic failure; Hepatosplenomegaly; Hypertelorism; Inverted nipples; Large fleshy ears; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Pericardial effusion; Periportal fibrosis; Polycystic kidney dysplasia; Posteriorly rotated ears; Pulmonary hypoplasia; Retrognathia; Seizures; Short long bone; Short neck; Skeletal dysplasia; Smooth philtrum; Telecanthus; Ulnar deviation of the hand; Underdeveloped nasal alae
ALX411p11.2100%gene with protein product605420PFM2Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Anteverted nares; Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nasal tip; Bifid nose; Brachycephaly; Broad nasal tip; Broad philtrum; Calvarial skull defect; Cerebellar vermis hypoplasia; Conical tooth; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased skull ossification; Depressed nasal bridge; Depressed nasal ridge; Depressed nasal tip; Dolichocephaly; Downturned corners of mouth; Encephalocele; Epicanthus; Exostoses; Fine hair; Frontal bossing; Global developmental delay; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Intellectual disability, mild; Intellectual disability, moderate; Intrauterine growth retardation; Low-set ears; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Nystagmus; Oligohydramnios; Parietal foramina; Prominent nasal bridge; Scrotal hypoplasia; Seizures; Short palpebral fissure; Short philtrum; Sparse and thin eyebrow; Sparse eyelashes; Strabismus; Symmetrical, oval parietal bone defects; Telecanthus; Underdeveloped nasal alae; Upslanted palpebral fissure; Variable expressivity; Wide nasal bridge
ANKH5p15.2100%gene with protein product605145CCAL2, CMDJAbnormality of pelvic girdle bone morphology; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the vertebral column; Adult onset; Arthralgia; Arthritis; Arthropathy; Autosomal dominant inheritance; Bony paranasal bossing; Calcification of cartilage; Calvarial osteosclerosis; Club-shaped distal femur; Craniofacial hyperostosis; Depressed nasal bridge; Erlenmeyer flask deformity of the femurs; Facial palsy; Hypertelorism; Joint swelling; Macrocephaly; Mandibular prognathia; Metaphyseal widening; Misalignment of teeth; Mixed hearing impairment; Nasal obstruction; Osteoarthritis; Osteopetrosis; Polyarticular chondrocalcinosis; Sclerosis of skull base; Skeletal dysplasia; Telecanthus; Wide nasal bridge
ANKLE212q24.33100%gene with protein product616062KIAA0692Abnormal cortical bone morphology; Adducted thumb; Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical gyral simplification; Cryptorchidism; Decreased body weight; Glaucoma; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Knee flexion contracture; Microcephaly; Micrognathia; Open mouth; Pachygyria; Ptosis; Seizures; Short stature; Sloping forehead; Spastic tetraplegia; Telecanthus; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
ANKRD1116q24.399.94%gene with protein product611192Anteverted nares; Autism; Autosomal dominant inheritance; Cervical ribs; Clinodactyly; Colpocephaly; Cryptorchidism; Delayed skeletal maturation; Frontal bossing; Global developmental delay; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, moderate; Long palpebral fissure; Long philtrum; Low anterior hairline; Low posterior hairline; Macrodontia; Macrotia; Microcephaly; Micrognathia; Oligodontia; Optic nerve hypoplasia; Periventricular gray matter heterotopia; Pointed chin; Protruding ear; Radial deviation of finger; Rib fusion; Round face; Seizures; Short stature; Single transverse palmar crease; Smooth philtrum; Syndactyly; Telecanthus; Thick eyebrow; Thoracic kyphosis; Triangular face; Underdeveloped nasal alae; Ventriculomegaly; Vertebral arch anomaly; Vertebral fusion; Wide mouth; Widely-spaced maxillary central incisors
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
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
B3GALT61p36.33100%gene with protein product61529111 pairs of ribs; Abnormal bone ossification; Abnormal facial shape; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the metaphysis; Advanced ossification of carpal bones; Aortic valve stenosis; Arachnodactyly; Atrial septal defect; Atrophic scars; Autosomal recessive inheritance; Bicuspid aortic valve; Blue sclerae; Broad distal phalanx of finger; Cleft palate; Congenital myopia; Coxa valga; Cryptorchidism; Cupped ribs; Cutis laxa; Decreased body weight; Delayed proximal femoral epiphyseal ossification; Dislocated radial head; Ectopia lentis; Elbow dislocation; Epicanthus; Flared iliac wings; Flared metaphysis; Flaring of rib cage; Flat face; Flexion contracture; Fragile skin; Generalized hypotonia; Gingivitis; Global developmental delay; Hallux valgus; High palate; Hip dislocation; Hip subluxation; Hyperextensible skin; Hyperlordosis; Hypoplastic iliac body; Irregular vertebral endplates; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Kyphosis; Large iliac wings; Lipodystrophy; Long philtrum; Long toe; Long upper lip; Macrocephaly; Malar flattening; Metatarsus adductus; Micrognathia; Micromelia; Midface retrusion; Mitral regurgitation; Muscular hypotonia; Narrow mouth; Osteopenia; Osteoporosis; Oval face; Ovoid vertebral bodies; Palmoplantar cutis gyrata; Paraplegia; Pathologic fracture; Pes planus; Platyspondyly; Progeroid facial appearance; Prominent forehead; Proptosis; Pulmonic stenosis; Radial bowing; Radial head subluxation; Scoliosis; Severe short stature; Short femoral neck; Short foot; Short iliac bones; Short long bone; Short metacarpal; Short nail; Short neck; Short palm; Short stature; Skeletal dysplasia; Skeletal muscle atrophy; Slender long bone; Soft, doughy skin; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Sparse scalp hair; Spinal cord compression; Spondyloepimetaphyseal dysplasia; Talipes equinovarus; Telecanthus; Testicular torsion; Thin skin; Ventricular septal defect; Wide nasal bridge
B4GALT75q35.3100%gene with protein product604327Abnormal facial shape; Abnormality of skin pigmentation; Absent earlobe; Accelerated skeletal maturation; Aortic valve stenosis; Arachnodactyly; Atrophic scars; Autosomal recessive inheritance; Bifid uvula; Bowing of the long bones; Coxa valga; Cryptorchidism; Cutis laxa; Epicanthus; Failure to thrive; Flexion contracture; Generalized hypotonia; Gingivitis; Global developmental delay; Hyperextensible skin; Joint laxity; Lipodystrophy; Long toe; Low-set ears; Macrocephaly; Midface retrusion; Muscular hypotonia; Narrow chest; Narrow mouth; Osteopenia; Palmoplantar cutis gyrata; Pectus carinatum; Pes planus; Progeroid facial appearance; Proptosis; Pulmonic stenosis; Radioulnar synostosis; Short clavicles; Short stature; Single transverse palmar crease; Skeletal dysplasia; Skeletal muscle atrophy; Slender toe; Small face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Telecanthus; Testicular torsion; Thin skin; Wide nasal bridge
C2CD311q13.4100%gene with protein product615944Abnormal facial shape; Absent speech; Aplasia of the epiglottis; Autosomal recessive inheritance; Bifid tongue; Cleft palate; Congenital onset; Hamartoma of tongue; Hypoplasia of the corpus callosum; Increased number of teeth; Intellectual disability; Intellectual disability, severe; Lobulated tongue; Microcephaly; Micropenis; Molar tooth sign on MRI; Postaxial polydactyly; Telecanthus; Trigonocephaly; Upslanted palpebral fissure
CCND212p13.32100%gene with protein product123833Abnormal localization of kidney; Abnormal nasal morphology; Autosomal dominant inheritance; Congenital onset; Depressed nasal bridge; Global developmental delay; High forehead; Hydrocephalus; Hypertelorism; Macrocephaly; Megalencephaly; Mitral regurgitation; Narrow mouth; Polymicrogyria; Postaxial hand polydactyly; Prominent forehead; Seizures; Telecanthus; Ventricular septal defect; Ventriculomegaly
CCNQXq2899.95%gene with protein product300708FAM58AAbnormal cardiac septum morphology; Anal atresia; Anal stenosis; Bicornuate uterus; Bicuspid aortic valve; Broad nasal tip; Bulbous nose; Clinodactyly of the 5th finger; Clitoral hypertrophy; Ectopic kidney; Horseshoe kidney; Intrauterine growth retardation; Labial hypoplasia; Lop ear; Narrow nose; Pelvic kidney; Peripheral pulmonary artery stenosis; Rectovaginal fistula; Renal agenesis; Renal insufficiency; Short stature; Small for gestational age; Telecanthus; Thin upper lip vermilion; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; X-linked dominant inheritance
CDH1116q21100%gene with protein product600023Abnormality of dentin; Abnormality of the sella turcica; Abnormality of the shape of the midface; Abnormality of the vertebral spinous processes; Advanced pneumatization of the mastoid process; Attached earlobe; Bifid uvula; Blepharochalasis; Brachycephaly; Broad nasal tip; Carious teeth; Craniosynostosis; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Flat face; High forehead; Highly arched eyebrow; Hypertelorism; Hypoplasia of the maxilla; Intellectual disability, moderate; Large earlobe; Mandibular prognathia; Microcephaly; Micropenis; Mixed hearing impairment; Pectus excavatum; Penoscrotal hypospadias; Periorbital wrinkles; Pointed chin; Premature loss of teeth; Proptosis; Rootless teeth; Short neck; Short philtrum; Strabismus; Submucous cleft hard palate; Synophrys; Telecanthus; Thickened calvaria; Thin vermilion border; Thoracolumbar kyphoscoliosis; Unilateral cleft palate
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
CHST1415q15.1100%gene with protein product608429D4ST1Abnormal anterior chamber morphology; Abnormality of the duodenum; Adducted thumb; Arachnodactyly; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blue sclerae; Brachycephaly; Broad forehead; Bruising susceptibility; Cleft palate; Constipation; Cryptorchidism; Delayed cranial suture closure; Diastasis recti; Distal arthrogryposis; Downslanted palpebral fissures; Facial asymmetry; Flat forehead; Fragile skin; Generalized hypotonia; Generalized joint laxity; Glaucoma; Global developmental delay; Hearing impairment; Hiatus hernia; High palate; Hydronephrosis; Hyperextensible skin; Hypertelorism; Intestinal malrotation; Joint dislocation; Joint laxity; Large fontanelles; Long philtrum; Microcornea; Microretrognathia; Motor delay; Myopia; Narrow mouth; Nephrotic syndrome; Pectus excavatum; Pneumothorax; Posteriorly rotated ears; Protruding ear; Recurrent skin infections; Retinal detachment; Scarring; Scoliosis; Strabismus; Talipes equinovarus; Telecanthus; Thin upper lip vermilion; Umbilical hernia; Ventriculomegaly
COL3A12q32.2100%gene with protein product120180EDS4AAbnormal circle of Willis morphology; Abnormal oral frenulum morphology; Abnormality of brainstem morphology; Abnormality of the eyelashes; Abnormality of the urinary system; Absent earlobe; Alopecia of scalp; Aortic dissection; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Bladder diverticulum; Bruising susceptibility; Carious teeth; Cerebral berry aneurysm; Cigarette-paper scars; Cognitive impairment; Convex nasal ridge; Cryptorchidism; Dermal translucency; Dilatation of the cerebral artery; Epicanthus; Excessive wrinkled skin; Fine hair; Flat face; Foot acroosteolysis; Fragile skin; Gastrointestinal infarctions; Glaucoma; Global developmental delay; Hemiparesis; Hemoptysis; Hyperextensible skin; Hypermobility of distal interphalangeal joints; Hypertelorism; Hypertension; Hypokalemia; Inguinal hernia; Intellectual disability; Internal hemorrhage; Irregular hyperpigmentation; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Keratoconus; Lipoatrophy; Macule; Melanocytic nevus; Micrognathia; Mitral valve prolapse; Molluscoid pseudotumors; Osteoarthritis; Osteolytic defects of the phalanges of the hand; Pectus excavatum; Periodontitis; Peripheral arteriovenous fistula; Pneumothorax; Premature birth; Premature delivery because of cervical insufficiency or membrane fragility; Premature loss of teeth; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Seizures; Short foot; Short stature; Small hand; Soft skin; Spontaneous pneumothorax; Sprengel anomaly; Striae distensae; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Transient ischemic attack; Uterine prolapse; Varicose veins; Visual field defect
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COLEC108q24.12100%gene with protein product607620Abnormal anterior chamber morphology; Abnormality of the pinna; Autosomal recessive inheritance; Bifid scrotum; Bilateral cryptorchidism; Blepharophimosis; Cleft palate; Cleft upper lip; Clinodactyly; Craniosynostosis; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Facial cleft; Hearing impairment; Highly arched eyebrow; Hyperlordosis; Hypertelorism; Intellectual disability; Large fleshy ears; Limited pronation/supination of forearm; Micropenis; Oral cleft; Penoscrotal hypospadias; Postnatal growth retardation; Preaxial polydactyly; Ptosis; Radioulnar synostosis; Scoliosis; Short stature; Spina bifida occulta; Supernumerary nipple; Telecanthus
COLEC112p25.3100%gene with protein product612502Abnormal anterior chamber morphology; Abnormal vertebral morphology; Autosomal recessive inheritance; Bilateral cryptorchidism; Blepharophimosis; Broad forehead; Broad philtrum; Caudal appendage; Cleft palate; Cleft upper lip; Craniosynostosis; Cryptorchidism; Depressed nasal tip; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hip dislocation; Hyperlordosis; Hypertelorism; Hypoplasia of the musculature; Intellectual disability; Joint hypermobility; Large fleshy ears; Limited elbow movement; Limited pronation/supination of forearm; Oral cleft; Partial abdominal muscle agenesis; Postnatal growth retardation; Prominence of the premaxilla; Prominent nasal bridge; Ptosis; Radioulnar synostosis; Scoliosis; Spina bifida occulta; Strabismus; Supernumerary nipple; Telecanthus; Torticollis; Wide nasal bridge
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
CRIPT2p2199.92%gene with protein product604594Anemia; Anisopoikilocytosis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Depressed nasal bridge; Frontal bossing; High forehead; Profound global developmental delay; Proptosis; Recurrent infections; Short digit; Short distal phalanx of finger; Sparse and thin eyebrow; Spotty hypopigmentation; Talipes; Talipes equinovarus; Telecanthus
DDHD28p11.2399.94%gene with protein product615003SAMWD1Abnormality of the periventricular white matter; Autosomal recessive inheritance; Babinski sign; Dysarthria; Dysphagia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Progressive; Short stature; Spastic paraplegia; Strabismus; Telecanthus
DOCK71p31.3100%gene with protein product615730Abnormality of the pinna; Autosomal recessive inheritance; Broad nasal tip; Cortical visual impairment; Epileptic encephalopathy; Global developmental delay; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypsarrhythmia; Infantile onset; Low anterior hairline; Narrow forehead; Periorbital fullness; Short philtrum; Telecanthus; Thick eyebrow; Thick vermilion border
DOK74p16.399.82%gene with protein product610285C4orf25Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the immune system; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Bulbar palsy; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Distal amyotrophy; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fatigable weakness; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Juvenile onset; Long philtrum; Micrognathia; Mildly elevated creatine phosphokinase; Multiple joint contractures; Muscle cramps; Narrow mouth; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Proximal amyotrophy; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; 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; Waddling gait
DSE6q22.1100%gene with protein product605942SART2Adducted thumb; Arachnodactyly; Autosomal recessive inheritance; Blue sclerae; Brachycephaly; Delayed gross motor development; Dental crowding; Downslanted palpebral fissures; Frontal bossing; Generalized muscle weakness; High palate; Inguinal hernia; Patent foramen ovale; Protruding ear; Talipes equinovarus; Telecanthus
EFNB1Xq13.1100%gene with protein product300035EPLG2, CFNSAbnormality of the dentition; Abnormality of the rib cage; Axillary pterygia; Bifid nasal tip; Brachycephaly; Brachydactyly; Broad hallux; Broad hallux phalanx; Camptodactyly of finger; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Congenital pseudoarthrosis of the clavicle; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Depressed nasal ridge; Down-sloping shoulders; Downslanted palpebral fissures; Exotropia; Facial asymmetry; Finger syndactyly; Fragile nails; Frontal bossing; Generalized hypotonia; Global developmental delay; Hand polydactyly; Hemihypotrophy of lower limb; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic nasal tip; Hypospadias; Intellectual disability; Joint hyperflexibility; Joint laxity; Low posterior hairline; Microcephaly; Midline defect of the nose; Muscular hypotonia; Nystagmus; Oral cleft; Pectus excavatum; Plagiocephaly; Ridged fingernail; Ridged nail; Sandal gap; Scoliosis; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short stature; Split nail; Sprengel anomaly; Telecanthus; Thickened nuchal skin fold; Toe syndactyly; Umbilical hernia; Unilateral breast hypoplasia; Wide nasal bridge; Woolly hair; X-linked dominant inheritance
EFTUD217q21.31100%gene with protein product603892Abnormality of the antihelix; Absent tragus; Accessory oral frenulum; Anteverted nares; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Choanal atresia; Cleft palate; Conductive hearing impairment; Deep philtrum; Delayed speech and language development; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Feeding difficulties in infancy; Global developmental delay; Hypoplasia of the maxilla; Intellectual disability; Large earlobe; Low-set ears; Malar flattening; Mandibulofacial dysostosis; Microcephaly; Micrognathia; Microtia; Midface retrusion; Morphological abnormality of the middle ear; Overfolded helix; Postnatal microcephaly; Preauricular skin tag; Preaxial hand polydactyly; Progressive microcephaly; Respiratory distress; Short nose; Short stature; Slender finger; Telecanthus; Trigonocephaly; Underdeveloped tragus; Upslanted palpebral fissure
EFTUD217q21.31100%gene with protein product603892Abnormality of the antihelix; Absent tragus; Accessory oral frenulum; Anteverted nares; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Choanal atresia; Cleft palate; Conductive hearing impairment; Deep philtrum; Delayed speech and language development; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Feeding difficulties in infancy; Global developmental delay; Hypoplasia of the maxilla; Intellectual disability; Large earlobe; Low-set ears; Malar flattening; Mandibulofacial dysostosis; Microcephaly; Micrognathia; Microtia; Midface retrusion; Morphological abnormality of the middle ear; Overfolded helix; Postnatal microcephaly; Preauricular skin tag; Preaxial hand polydactyly; Progressive microcephaly; Respiratory distress; Short nose; Short stature; Slender finger; Telecanthus; Trigonocephaly; Underdeveloped tragus; Upslanted palpebral fissure
ETFA15q24.2-q24.99.95%gene with protein product608053Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFB19q13.41100%gene with protein product130410Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFDH4q32.199.97%gene with protein product231675Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
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
FGF105p12100%gene with protein product6021152-3 finger syndactyly; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Alacrima; Aplasia of the parotid gland; Autosomal dominant inheritance; Bilateral triphalangeal thumbs; Broad forehead; Broad hallux; Carious teeth; Clinodactyly of the 5th finger; Conical incisor; Corneal perforation; Coronal hypospadias; Cupped ear; Dacryocystitis; Delayed eruption of primary teeth; Downslanted palpebral fissures; Hyperextensible skin; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic lacrimal duct; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Mixed hearing impairment; Nasolacrimal duct obstruction; Nephrosclerosis; Partial duplication of thumb phalanx; Periorbital fullness; Preaxial polydactyly; Radial deviation of the 3rd finger; Recurrent corneal erosions; Renal agenesis; Small thenar eminence; Telecanthus; Xerostomia
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FOXL23q22.399.98%gene with protein product605597BPESAbnormality of the breast; Abnormality of the hair; Amenorrhea; Autosomal dominant inheritance; Blepharophimosis; Cupped ear; Depressed nasal bridge; Epicanthus inversus; Female infertility; High palate; Hypermetropia; Hypoplasia of the uterus; Increased circulating gonadotropin level; Microcornea; Microphthalmia; Nystagmus; Premature ovarian insufficiency; Ptosis; Secondary amenorrhea; Strabismus; Telecanthus; Wide nasal bridgeDisorders of Sex Development
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
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
HECW22q32.397.35%gene with protein product617245Abnormal facial shape; Autosomal dominant inheritance; Bulbous nose; Cerebral atrophy; Depressed nasal bridge; EEG abnormality; Epicanthus; Intellectual disability; Macrotia; Midface retrusion; Nasogastric tube feeding; Nystagmus; Recurrent hand flapping; Seizures; Self-injurious behavior; Sparse eyebrow; Telecanthus; Thick eyebrow; Thick lower lip vermilion; Wide mouth
HHAT1q32.299.89%gene with protein product605743Abnormality of pelvic girdle bone morphology; Abnormality of the shoulder; Blepharophimosis; Brain very small; Broad long bones; Chorioretinal coloboma; Deeply set eye; Hypoplasia of the iris; Increased skull ossification; Intellectual disability; Intrauterine growth retardation; Macrotia; Male pseudohermaphroditism; Microcephaly; Micromelia; Miosis; Narrow chest; Severe short stature; Short metacarpal; Short phalanx of finger; Strabismus; Telecanthus
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
HIST1H1E6p22.2100%gene with protein product142220H1F4Accelerated skeletal maturation; Amblyopia; Astigmatism; Autosomal dominant inheritance; Camptodactyly; Full cheeks; Global developmental delay; Hypertonia; Intellectual disability; Kyphoscoliosis; Macrocephaly; Neonatal hypotonia; Nevus; Strabismus; Talipes equinovarus; Telecanthus
HNRNPU1q4499.91%gene with protein product602869HNRPU, HNRNPU-AS1, C1orf199, NCRNA00201Abnormal cardiac septum morphology; Agenesis of corpus callosum; Autosomal dominant inheritance; Delayed myelination; Delayed speech and language development; EEG abnormality; Epicanthus; Epileptic encephalopathy; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, severe; Microcephaly; Micrognathia; Muscular hypotonia; Seizures; Short stature; Smooth philtrum; Strabismus; Telecanthus; Thin vermilion border; Upslanted palpebral fissure; Ventriculomegaly
HRAS11p15.5100%gene with protein product190020HRAS1Abnormal dermatoglyphics; Abnormality of dental color; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of finger; Abnormality of the fingernails; Abnormality of toe; Abnormality of vision; Acanthosis nigricans; Achilles tendon contracture; Adenoma sebaceum; Alopecia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Arnold-Chiari type I malformation; Arrhythmia; Asymmetric growth; Atrial septal defect; Autosomal dominant inheritance; Barrel-shaped chest; Basal cell carcinoma; Biparietal narrowing; Bladder carcinoma; Bronchomalacia; Cavernous hemangioma; Cerebral atrophy; Cerebral cortical atrophy; Coarctation of aorta; Coarse facial features; Coloboma; Concave nail; Cranial asymmetry; Cryptorchidism; Curly hair; Deep palmar crease; Deep plantar creases; Deep-set nails; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Enlarged cerebellum; Epicanthus; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fragile nails; Frontal bossing; Full cheeks; Gastroesophageal reflux; Genu recurvatum; Global developmental delay; Hemangioma; Hemimegalencephaly; High palate; Hoarse voice; Horseshoe kidney; Hydrocephalus; Hyperextensibility of the finger joints; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypertelorism; Hypertrophic cardiomyopathy; Hypoglycemia; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplastic toenails; Ichthyosis; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Keratoconus; Kyphoscoliosis; Lack of skin elasticity; Limited elbow movement; Low-set ears; Macrocephaly; Macroglossia; Melanocytic nevus; Micrognathia; Microphthalmia; Mitral valve prolapse; Muscular hypotonia; Narrow palate; Nevus; Nevus sebaceous; Obstructive sleep apnea; Osteopenia; Overgrowth; Papilloma; Pectus carinatum; Plagiocephaly; Pneumothorax; Pointed chin; Polyhydramnios; Poor suck; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Ptosis; Pulmonic stenosis; Pyloric stenosis; Recurrent fractures; Reduced tendon reflexes; Redundant neck skin; Redundant skin; Respiratory failure; Rhabdomyosarcoma; Seizures; Short neck; Short stature; Somatic mosaicism; Sparse hair; Sporadic; Strabismus; Sudden death; Talipes equinovarus; Telecanthus; Thick lower lip vermilion; Thickened Achilles tendon; Thickened nuchal skin fold; Thin nail; Tracheomalacia; Ulnar deviation of finger; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Vestibular Schwannoma; Webbed neck; Wide anterior fontanel; Woolly hair
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT5220q13.1299.95%gene with protein product617094C20orf9Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Carious teeth; Cone-shaped epiphyses of the phalanges of the hand; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Flat acetabular roof; Frontal bossing; Full cheeks; High forehead; Hypermetropia; Hypodontia; Hypoplasia of the corpus callosum; Hypotelorism; Joint hyperflexibility; Limb undergrowth; Low-set ears; Microdontia; Midface retrusion; Motor delay; Narrow chest; Osteoporosis; Pectus excavatum; Prominent occiput; Respiratory distress; Rhizomelia; Sandal gap; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Sparse hair; Telecanthus; Wide nasal bridgeShort-Rib Thoracic Dysplasia
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
KCTD118q11.2100%gene with protein product613420C18orf52-3 toe syndactyly; 3-4 finger cutaneous syndactyly; Abnormality of the antihelix; Abnormality of the endocrine system; Abnormality of the fingernails; Abnormality of the scalp; Abnormality of the skin; Abnormality of the thorax; Agenesis of permanent teeth; Aplasia/Hypoplasia of the nipples; Autosomal dominant inheritance; Breast aplasia; Cataract; Cupped ear; Delayed eruption of teeth; Depressed nasal bridge; Hypertension; Low-set ears; Microtia; Nail dysplasia; Palpebral edema; Protruding ear; Recurrent urinary tract infections; Small earlobe; Sparse hair; Telecanthus; Type I diabetes mellitus; Underdeveloped antitragus; Underdeveloped tragusHeterotaxy
KIF1BP10q22.1100%gene with protein product609367KIAA1279Aganglionic megacolon; Autosomal recessive inheritance; Blue sclerae; Bulbous nose; Cleft palate; Clinodactyly; Congenital onset; Corneal erosion; Corneal ulceration; Downslanted palpebral fissures; Everted lower lip vermilion; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Intellectual disability; Iris coloboma; Low-set ears; Megalocornea; Microcephaly; Muscular hypotonia; Pachygyria; Polymicrogyria; Prominent nasal bridge; Ptosis; Short neck; Short philtrum; Short stature; Small hand; Sparse hair; Specific learning disability; Synophrys; Tapered finger; Telecanthus; Thick eyebrow; Thick vermilion border; Wide intermamillary distance; Wide nasal bridge
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
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
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
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
MAP3K76q15100%gene with protein product602614TAK1Abnormal form of the vertebral bodies; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the metaphysis; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Bowing of the long bones; Brachydactyly; Broad nasal tip; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital sensorineural hearing impairment; Craniofacial hyperostosis; Decreased testicular size; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Failure of eruption of permanent teeth; Failure to thrive; Freckling; Full cheeks; Fused cervical vertebrae; Gastroesophageal reflux; High palate; High, narrow palate; Hip contracture; Hypertelorism; Hypoplasia of the musculature; Irregular metacarpals; Joint laxity; Joint stiffness; Long fingers; Long metacarpals; Long philtrum; Micrognathia; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Patent ductus arteriosus; Patent foramen ovale; Pointed chin; Posterior vertebral hypoplasia; Posteriorly rotated ears; Prominent supraorbital ridges; Pseudoepiphyses; Pulmonic stenosis; Recurrent otitis media; Reduced number of teeth; Rib fusion; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short foot; Short metacarpal; Short metatarsal; Short palm; Short philtrum; Short stature; Strabismus; Subglottic stenosis; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Telecanthus; Thick eyebrow; Tracheal stenosis; Ulnar deviation of finger; Ulnar deviation of the hand; Upslanted palpebral fissure; Vesicoureteral reflux; Wide nasal bridge
MASP13q27.3100%gene with protein product600521CRARF, PRSS5Abnormal anterior chamber morphology; Abnormality of eye movement; Atrial septal defect; Autosomal recessive inheritance; Bilateral cryptorchidism; Blepharophimosis; Broad foot; Caudal appendage; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Conjunctival telangiectasia; Coronal craniosynostosis; Craniosynostosis; Dental crowding; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Glaucoma; Growth delay; Hearing impairment; Highly arched eyebrow; Hydronephrosis; Hyperlordosis; Hypertelorism; Intellectual disability; Intellectual disability, mild; Lambdoidal craniosynostosis; Large fleshy ears; Limited pronation/supination of forearm; Microcephaly; Omphalocele; Oral cleft; Patent ductus arteriosus; Postnatal growth retardation; Ptosis; Radioulnar synostosis; Sacral dimple; Scoliosis; Short 5th finger; Short foot; Single interphalangeal crease of fifth finger; Skull asymmetry; Spina bifida occulta; Supernumerary nipple; Telecanthus; Underdeveloped supraorbital ridges; Ventricular septal defect; Wide anterior fontanel
MID1Xp22100%gene with protein product300552Abnormal heart morphology; Abnormality of the nasopharynx; Agenesis of corpus callosum; Anal atresia; Anteverted nares; Aspiration; Cleft palate; Cleft upper lip; Cryptorchidism; Dysphagia; Esophageal atresia; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Heterogeneous; High palate; Hypertelorism; Hypospadias; Posterior pharyngeal cleft; Prominent forehead; Smooth philtrum; Telecanthus; Thin upper lip vermilion; Tracheoesophageal fistula; Wide nasal bridge; X-linked recessive inheritanceVACTERL Association
MUSK9q31.3100%gene with protein product601296Abnormality 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; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Infantile onset; Intrauterine growth retardation; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; 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
MYH317p13.1100%gene with protein product160720Abnormal auditory evoked potentials; Abnormality of the dentition; Abnormality of the ear; Abnormality of the hip bone; Abnormality of the skin; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Blepharophimosis; Breech presentation; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Cerebellar atrophy; Chin with H-shaped crease; Cryptorchidism; Deeply set eye; Depressed nasal ridge; Dimple chin; Distal arthrogryposis; Downslanted palpebral fissures; Elbow flexion contracture; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fever; Flat face; Flexion contracture of toe; Hearing impairment; Hemivertebrae; High palate; Hip contracture; Hip dislocation; Hypertelorism; Hypoplasia of the brainstem; Inguinal hernia; Joint contracture of the hand; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Long philtrum; Low-set, posteriorly rotated ears; Malar flattening; Malignant hyperthermia; Mandibular prognathia; Mask-like facies; Metatarsus adductus; Microcephaly; Micrognathia; Multiple pterygia; Muscle weakness; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Overlapping fingers; Postnatal growth retardation; Prenatal movement abnormality; Prominent forehead; Prominent nasolabial fold; Protruding ear; Ptosis; Rocker bottom foot; Round ear; Scoliosis; Seizures; Short neck; Short nose; Short stature; Shoulder flexion contracture; Small for gestational age; Spina bifida occulta; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Telecanthus; Triangular face; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Whistling appearance; Wide nasal bridge
NOTCH21p1299.71%gene with protein product600275Abnormal cardiac septum morphology; Abnormality of the fingernails; Absent frontal sinuses; Anteverted nares; Arnold-Chiari malformation; Arthralgia; Atrial septal defect; Autosomal dominant inheritance; Basilar impression; Biconcave vertebral bodies; Bone pain; Brachydactyly; Broad forehead; Cervical instability; Cholestasis; Cholestatic liver disease; Coarse facial features; Conductive hearing impairment; Crowded carpal bones; Cryptorchidism; Decreased skull ossification; Dental malocclusion; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Elongated sella turcica; Epicanthus; Failure to thrive; Foot acroosteolysis; Full cheeks; Generalized hirsutism; Genu valgum; Hearing impairment; Hematuria; High palate; Hirsutism; Hydrocephalus; Hypertelorism; Hypertension; Hypoplastic 5th lumbar vertebrae; Hypospadias; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Large earlobe; Long eyelashes; Long nose; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Narrow mouth; Open bite; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Partial absence of toe; Patent ductus arteriosus; Pathologic fracture; Periodontitis; Peripheral pulmonary artery stenosis; Phenotypic variability; Platybasia; Pointed chin; Posterior embryotoxon; Premature loss of teeth; Prominent occiput; Proteinuria; Pulmonic stenosis; Recurrent fractures; Renal cyst; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Scoliosis; Short distal phalanx of finger; Short nail; Short neck; Short stature; Short toe; Skeletal dysplasia; Synophrys; Tall lumbar vertebral bodies; Telecanthus; Tetralogy of Fallot; Thick eyebrow; Thin vermilion border; Triangular face; Umbilical hernia; Vertebral compression fractures; Wide nose; Wormian bonesVACTERL Association
NOTCH21p1299.71%gene with protein product600275Abnormal cardiac septum morphology; Abnormality of the fingernails; Absent frontal sinuses; Anteverted nares; Arnold-Chiari malformation; Arthralgia; Atrial septal defect; Autosomal dominant inheritance; Basilar impression; Biconcave vertebral bodies; Bone pain; Brachydactyly; Broad forehead; Cervical instability; Cholestasis; Cholestatic liver disease; Coarse facial features; Conductive hearing impairment; Crowded carpal bones; Cryptorchidism; Decreased skull ossification; Dental malocclusion; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Elongated sella turcica; Epicanthus; Failure to thrive; Foot acroosteolysis; Full cheeks; Generalized hirsutism; Genu valgum; Hearing impairment; Hematuria; High palate; Hirsutism; Hydrocephalus; Hypertelorism; Hypertension; Hypoplastic 5th lumbar vertebrae; Hypospadias; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Large earlobe; Long eyelashes; Long nose; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Narrow mouth; Open bite; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Partial absence of toe; Patent ductus arteriosus; Pathologic fracture; Periodontitis; Peripheral pulmonary artery stenosis; Phenotypic variability; Platybasia; Pointed chin; Posterior embryotoxon; Premature loss of teeth; Prominent occiput; Proteinuria; Pulmonic stenosis; Recurrent fractures; Renal cyst; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Scoliosis; Short distal phalanx of finger; Short nail; Short neck; Short stature; Short toe; Skeletal dysplasia; Synophrys; Tall lumbar vertebral bodies; Telecanthus; Tetralogy of Fallot; Thick eyebrow; Thin vermilion border; Triangular face; Umbilical hernia; Vertebral compression fractures; Wide nose; Wormian bonesVACTERL Association
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
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
OFD1Xp22.299.66%gene with protein product300170CXorf5, RP23Abnormal cortical gyration; Abnormal electroretinogram; Abnormal heart morphology; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the cerebellum; Abnormality of the retinal vasculature; Abnormality of the rib cage; Abnormality of the testis; Abnormality of toe; Accessory oral frenulum; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Alveolar ridge overgrowth; Anteverted nares; Arachnoid cyst; Ataxia; Atypical scarring of skin; Bifid tongue; Blindness; Brachydactyly; Broad alveolar ridges; Broad palm; Carious teeth; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital onset; Deep philtrum; Downslanted palpebral fissures; Enlarged cisterna magna; Epicanthus; Facial asymmetry; Facial capillary hemangioma; Feeding difficulties in infancy; Finger syndactyly; Foot polydactyly; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Gray matter heterotopias; Growth delay; Hamartoma of tongue; Hearing impairment; Hepatic cysts; Hepatic fibrosis; High palate; Hirsutism; Hydrocephalus; Hyperactive deep tendon reflexes; Hyperinsulinemia; Hypertelorism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of dental enamel; Hypoplasia of penis; Hypothalamic hamartoma; Increased number of teeth; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Keratoconus; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip; Microcephaly; Micropenis; Microretrognathia; Milia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovarian cyst; Photophobia; Pneumonia; Polycystic kidney dysplasia; Polydactyly; Porencephalic cyst; Postaxial polydactyly; Posteriorly rotated ears; Progressive night blindness; Proteinuria; Radial deviation of finger; Recurrent infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Reduced bone mineral density; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Short finger; Short neck; Short nose; Short stature; Short toe; Single transverse palmar crease; Small nail; Sparse hair; Syndactyly; Talipes equinovarus; Tapered finger; Telecanthus; Thick vermilion border; Thickened nuchal skin fold; Thin upper lip vermilion; Tongue nodules; U-Shaped upper lip vermilion; Underdeveloped nasal alae; Wide intermamillary distance; Wide mouth; Wide nasal bridge; Wide nose; X-linked dominant inheritance; X-linked recessive inheritanceHeterotaxy ; Obesity
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
PIK3R219p13.1196.64%gene with protein product603157Abnormal localization of kidney; Abnormal nasal morphology; Abnormally large globe; Atrial septal defect; Autosomal dominant inheritance; Blindness; Depressed nasal bridge; Frontal bossing; Global developmental delay; High forehead; Hydrocephalus; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability, profound; Knee flexion contracture; Kyphosis; Long palpebral fissure; Macrocephaly; Megalencephaly; Mitral regurgitation; Muscular hypotonia of the trunk; Narrow mouth; Pachygyria; Polymicrogyria; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Seizures; Skeletal muscle atrophy; Telecanthus; Thick corpus callosum; Thoracic scoliosis; Vascular ring; Ventricular septal defect
PTH1R3p21.3199.98%gene with protein product168468PTHR, PTHR1Abnormal trabecular bone morphology; Abnormality of epiphysis morphology; Abnormality of the acetabulum; Abnormality of the fingertips; Abnormality of the metaphysis; Absence of the sacrum; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplastic clavicles; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Brachycephaly; Broad clavicles; Broad foot; Broad palm; Cataract; Choanal atresia; Choanal stenosis; Clinodactyly of the 5th finger; Clubbing of fingers; Cubitus valgus; Delayed epiphyseal ossification; Depressed nasal bridge; Distal shortening of limbs; Elevated alkaline phosphatase; Epiphyseal dysplasia; Failure of eruption of permanent teeth; Fibular hypoplasia; Flared metaphysis; Generalized osteosclerosis; Hearing impairment; High iliac wings; Hip contracture; Hydrops fetalis; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypertelorism; Hypodontia; Hypoparathyroidism; Hypophosphatemia; Increased bone mineral density; Joint stiffness; Knee flexion contracture; Laryngeal calcification; Lethal skeletal dysplasia; Limited elbow flexion; Limited hip movement; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Micrognathia; Micromelia; Misalignment of teeth; Multiple enchondromatosis; Narrow chest; Narrow pelvis bone; Natal tooth; Neonatal short-limb short stature; Nephrocalcinosis; Osteolysis; Osteopenia; Pathologic fracture; Persistence of primary teeth; Platyspondyly; Polyhydramnios; Premature birth; Prominent supraorbital arches in adult; Proptosis; Protruding tongue; Protuberant abdomen; Pulmonary hypoplasia; Rhizomelia; Severe short stature; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short toe; Skeletal dysplasia; Squared iliac bones; Stillbirth; Subcutaneous nodule; Synostosis of joints; Telecanthus; Thick skull base; Thin bony cortex; Visceral angiomatosis; Waddling gaitEctodermal Dysplasia
RAB236p12.1-p11.299.17%gene with protein product606144Abnormal cornea morphology; Abnormality of the pinna; Agenesis of permanent teeth; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the middle phalanges of the toes; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad thumb; Camptodactyly; Cerebral atrophy; Clinodactyly of the 5th finger; Cloverleaf skull; Complete duplication of proximal phalanx of the thumb; Conductive hearing impairment; Coronal craniosynostosis; Coxa valga; Craniosynostosis; Cryptorchidism; Depressed nasal bridge; Duplication of the proximal phalanx of the hallux; Epicanthus; External genital hypoplasia; Finger syndactyly; Flared iliac wings; Genu valgum; Genu varum; High palate; Hydronephrosis; Hydroureter; Hypoplasia of the maxilla; Intellectual disability; Joint contracture of the hand; Lambdoidal craniosynostosis; Large foramen magnum; Lateral displacement of patellae; Low-set ears; Malar flattening; Metatarsus adductus; Microcornea; Micrognathia; Midface retrusion; Obesity; Omphalocele; Opacification of the corneal stroma; Optic atrophy; Oxycephaly; Patent ductus arteriosus; Persistence of primary teeth; Polysplenia; Postaxial hand polydactyly; Preauricular pit; Preaxial foot polydactyly; Precocious puberty; Pseudoepiphyses of the proximal phalanges of the hand; Pulmonic stenosis; Sacral dimple; Sagittal craniosynostosis; Scoliosis; Sensorineural hearing impairment; Shallow acetabular fossae; Short neck; Short stature; Spina bifida occulta; Telecanthus; Tetralogy of Fallot; Toe syndactyly; Transposition of the great arteries; Umbilical hernia; Underdeveloped supraorbital ridges; Ventricular septal defectObesity
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
RNF12518q12.199.82%gene with protein product610432Anteverted nares; Anxiety; Apnea; Autosomal dominant inheritance; Cerebral cortical atrophy; Cerebral palsy; Clumsiness; Delayed cranial suture closure; Delayed speech and language development; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Hydrocephalus; Hypertrichosis; Hypoglycemia; Hypoinsulinemia; Intellectual disability; Keratoconjunctivitis sicca; Large forehead; Macrocephaly; Macroglossia; Mandibular prognathia; Osteopenia; Pneumonia; Raynaud phenomenon; Scoliosis; Seizures; Syncope; Telecanthus; Thick eyebrow; Ventriculomegaly; Wide nose
RPS6KA3Xp22.1298.52%gene with protein product300075MRX19, CLSAbnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of dental morphology; Anteverted nares; Bifid sternum; Brachydactyly; Broad finger; Broad nasal tip; Broad palm; Coarse facial features; Coarse hair; Coxa valga; Craniofacial hyperostosis; Cutis laxa; Cutis marmorata; Decreased body weight; Delayed closure of the anterior fontanelle; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Drumstick terminal phalanges; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Generalized hypotonia; High palate; Highly arched eyebrow; Hyperconvex fingernails; Hyperextensibility of the finger joints; Hypertelorism; Hypodontia; Hypoplasia of the maxilla; Hypoplastic fingernail; Inguinal hernia; Intellectual disability; Joint hyperflexibility; Kyphoscoliosis; Kyphosis; Large hands; Long foot; Lumbar kyphosis; Mandibular prognathia; Microcephaly; Mitral regurgitation; Motor delay; Muscular hypotonia; Narrow iliac wings; Narrow palate; Neurological speech impairment; Open mouth; Pectus carinatum; Pectus excavatum; Pes planus; Progressive spasticity; Prominent forehead; Prominent supraorbital ridges; Protruding ear; Pseudoepiphyses of the metacarpals; Rectal prolapse; Redundant skin; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short distal phalanx of finger; Short metacarpal; Short stature; Single transverse palmar crease; Sporadic; Tapered finger; Telecanthus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick nasal septum; Thickened calvaria; Uterine prolapse; Ventriculomegaly; Wide mouth; Wide nose; Widely spaced teeth; X-linked dominant inheritance
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
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
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SNAI28q11.21100%gene with protein product602150SLUGAbnormality of the ear; Absent pigmentation of the ventral chest; Aganglionic megacolon; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital sensorineural hearing impairment; Heterochromia iridis; Heterogeneous; Hypopigmented skin patches; Macule; Neoplasm; Partial albinism; Piebaldism; Premature graying of hair; Sensorineural hearing impairment; Telecanthus; White eyebrow; White eyelashes; White forelockWaardenburg Syndrome
SOX1022q13.199.98%gene with protein product602229Abdominal pain; Abnormal eyebrow morphology; Abnormal macular morphology; Abnormal pyramidal signs; Abnormality of the voice; Abnormality of vision; Absent brainstem auditory responses; Aganglionic megacolon; Alacrima; Anosmia; Anterior hypopituitarism; Aplasia of the semicircular canal; Areflexia; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Blue irides; Breast hypoplasia; Cafe-au-lait spot; Cerebral dysmyelination; Cerebral hypomyelination; Constipation; Cryptorchidism; Decreased fertility; Decreased lacrimation; Decreased nerve conduction velocity; Decreased testicular size; Delayed puberty; Demyelinating peripheral neuropathy; Dilated vestibule of the inner ear; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysmyelinating leukodystrophy; Erectile abnormalities; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypertonia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Hyporeflexia; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Ileus; Intellectual disability; Intestinal obstruction; Long-segment aganglionic megacolon; Microcolon; Micropenis; Muscular hypotonia; Muscular hypotonia of the trunk; Myelin outfoldings; Neonatal hypotonia; Nystagmus; Olfactory lobe agenesis; Pectus excavatum; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Phenotypic variability; Premature graying of hair; Prominent nasal bridge; Reduced bone mineral density; Seizures; Sensorineural hearing impairment; Spastic paraparesis; Spastic tetraplegia; Spasticity; Synophrys; Telecanthus; Underdeveloped nasal alae; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development
STAC312q13.3100%gene with protein product615521Autosomal recessive inheritance; Blepharophimosis; Cleft palate; Cryptorchidism; Downslanted palpebral fissures; Downturned corners of mouth; Feeding difficulties; Flexion contracture; High palate; Hyporeflexia; Kyphoscoliosis; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple skeletal anomalies; Muscle weakness; Myopathic facies; Ptosis; Restrictive deficit on pulmonary function testing; Short palpebral fissure; Short stature; Skeletal muscle atrophy; Talipes; Telecanthus
TAPT14p15.3299.91%gene with protein product612758Adducted thumb; Anteverted nares; Ascites; Autosomal recessive inheritance; Beaded ribs; Brachycephaly; Cardiomegaly; Cerebellar hypoplasia; Cleft palate; Decreased skull ossification; Flared metaphysis; Flat face; Flexion contracture; Fractured radius; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypertrophic cardiomyopathy; Hypospadias; Intrauterine growth retardation; Large fleshy ears; Limb undergrowth; Low-set ears; Microcephaly; Micrognathia; Micropenis; Multiple prenatal fractures; Multiple rib fractures; Osteopenia; Platyspondyly; Pleural effusion; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Pulmonary hypoplasia; Short femur; Short neck; Short nose; Short ribs; Single umbilical artery; Small for gestational age; Telecanthus; Thoracic hypoplasia; Unilateral cleft lip; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide nasal bridge; Wormian bones
TBL1XR13q26.32100%gene with protein product608628Abnormal peripheral nervous system morphology; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brachycephaly; Brachydactyly; Broad face; Broad foot; Broad hallux; Broad palm; Broad philtrum; Broad thumb; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Decreased body weight; Deep palmar crease; Deep plantar creases; Deeply set eye; Delayed speech and language development; Dysarthria; Enuresis nocturna; Everted lower lip vermilion; Feeding difficulties in infancy; Full cheeks; Global developmental delay; High anterior hairline; High forehead; High palate; Hyperreflexia; Hypertelorism; Hypoplastic areola; Intellectual disability; Large fleshy ears; Long upper lip; Malar flattening; Microcephaly; Midface retrusion; Narrow face; Nasal speech; Pectus carinatum; Pectus excavatum; Pes planus; Phenotypic variability; Posteriorly rotated ears; Progressive spastic paraplegia; Scissor gait; Short finger; Short foot; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Smooth philtrum; Telecanthus; Unilateral narrow palpebral fissure; Wide intermamillary distance; Wide nose; Widely spaced teeth
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
TFAP2A6p24.399.95%gene with protein product107580TFAP2, AP2TFAbnormality of the dentition; Abnormality of the pinna; Agenesis of cerebellar vermis; Anophthalmia; Aplasia cutis congenita; Atypical scarring of skin; Autosomal dominant inheritance; Branchial anomaly; Broad nasal tip; Cataract; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Deep philtrum; Depressed nasal bridge; Dermal atrophy; Dolichocephaly; Duplication of internal organs; Ectopic thymus tissue; Elbow flexion contracture; Everted lower lip vermilion; Fingernail dysplasia; Fusion of middle ear ossicles; Gastroesophageal reflux; Hamartoma; Hemangioma; High palate; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic superior helix; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower lip pit; Malar flattening; Malrotation of colon; Microcephaly; Microdontia; Micrognathia; Microphthalmia; Microtia; Myopia; Nasal speech; Nasolacrimal duct obstruction; Neurological speech impairment; Non-midline cleft lip; Nystagmus; Overfolded helix; Postauricular pit; Posteriorly rotated ears; Preauricular pit; Preaxial hand polydactyly; Premature graying of hair; Proximal placement of thumb; Ptosis; Pyloric stenosis; Reduced number of teeth; Renal agenesis; Renal cyst; Retinal coloboma; Seizures; Sensorineural hearing impairment; Short nasal septum; Short neck; Short stature; Short thumb; Single transverse palmar crease; Small forehead; Strabismus; Supernumerary nipple; Supraauricular pit; Telecanthus; Upslanted palpebral fissure; White forelock; Wide intermamillary distance; Wide nasal bridge
TWIST22q37.3100%gene with protein product607556Ablepharon; Abnormal hair pattern; Abnormal nasal morphology; Abnormality of female external genitalia; Abnormality of male external genitalia; Abnormality of the pinna; Abnormality of the sacroiliac joint; Abnormality of the upper urinary tract; Absent eyebrow; Absent eyelashes; Aged leonine appearance; Ambiguous genitalia; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast aplasia; Breast hypoplasia; Bulbous nose; Camptodactyly of finger; Corneal opacity; Cryptophthalmos; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Dermal atrophy; Dimple chin; Distichiasis; Downturned corners of mouth; Dry skin; Ectodermal dysplasia; Ectropion; Epicanthus; Excessive wrinkled skin; Failure to thrive; Fine hair; Generalized hirsutism; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hyperextensible skin; Hypertelorism; Hypertrichosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic nipples; Low-set ears; Mandibular prognathia; Microdontia; Microtia; Microtia, third degree; Multiple rows of eyelashes; Myopia; Periorbital fullness; Prematurely aged appearance; Redundant skin; Short philtrum; Sparse and thin eyebrow; Sparse hair; Sparse lateral eyebrow; Sparse lower eyelashes; Sparse or absent eyelashes; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Underdeveloped nasal alae; Ventral hernia; Visual impairment; Wide mouth; Wide nasal bridgeEctodermal Dysplasia
TWIST22q37.3100%gene with protein product607556Ablepharon; Abnormal hair pattern; Abnormal nasal morphology; Abnormality of female external genitalia; Abnormality of male external genitalia; Abnormality of the pinna; Abnormality of the sacroiliac joint; Abnormality of the upper urinary tract; Absent eyebrow; Absent eyelashes; Aged leonine appearance; Ambiguous genitalia; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast aplasia; Breast hypoplasia; Bulbous nose; Camptodactyly of finger; Corneal opacity; Cryptophthalmos; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Dermal atrophy; Dimple chin; Distichiasis; Downturned corners of mouth; Dry skin; Ectodermal dysplasia; Ectropion; Epicanthus; Excessive wrinkled skin; Failure to thrive; Fine hair; Generalized hirsutism; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hyperextensible skin; Hypertelorism; Hypertrichosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic nipples; Low-set ears; Mandibular prognathia; Microdontia; Microtia; Microtia, third degree; Multiple rows of eyelashes; Myopia; Periorbital fullness; Prematurely aged appearance; Redundant skin; Short philtrum; Sparse and thin eyebrow; Sparse hair; Sparse lateral eyebrow; Sparse lower eyelashes; Sparse or absent eyelashes; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Underdeveloped nasal alae; Ventral hernia; Visual impairment; Wide mouth; Wide nasal bridgeEctodermal Dysplasia
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
VPS33A12q24.31100%gene with protein product610034Abnormality of the foot; Acetabular dysplasia; Anemia; Autosomal recessive inheritance; Coarse facial features; Coarse hair; Dysostosis multiplex; Epicanthus; Flared iliac wings; Flexion contracture; Focal segmental glomerulosclerosis; Global developmental delay; Hepatomegaly; Hirsutism; Hypertrophic cardiomyopathy; Infantile onset; J-shaped sella turcica; Long eyelashes; Macroglossia; Macrovesicular hepatic steatosis; Optic atrophy; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Prominent forehead; Proteinuria; Recurrent respiratory infections; Respiratory distress; Short neck; Splenomegaly; Synophrys; Telecanthus; Thick vermilion border; Thrombocytopenia; Tubular atrophy; Wide nasal bridge; Wide nose
WDR352p24.199.89%gene with protein product613602Abdominal distention; Abnormal diaphysis morphology; Abnormal pelvis bone ossification; Abnormal toenail morphology; Abnormality of cardiovascular system morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the pinna; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Anteverted nares; Autosomal recessive inheritance; Blepharophimosis; Bowing of the long bones; Brachydactyly; Cleft upper lip; Congenital hepatic fibrosis; Craniosynostosis; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypodontia; Hypoplasia of penis; Hypoplastic scapulae; Hypospadias; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint laxity; Lethal skeletal dysplasia; Long philtrum; Low-set ears; Macrocephaly; Microdontia; Micrognathia; Micromelia; Narrow chest; Osteoporosis; Pectus excavatum; Polycystic kidney dysplasia; Polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Prominent occiput; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short distal phalanx of finger; Short foot; Short long bone; Short neck; Short palm; Short ribs; Short thorax; Sparse hair; Syndactyly; Telecanthus; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide nose; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
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
ZMPSTE241p34.2100%gene with protein product606480Abnormal cellular phenotype; Abnormal trabecular bone morphology; Abnormality of the dentition; Abnormality of the fingertips; Abnormality of the neck; Abnormality of the pinna; Absence of pubertal development; Absent eyelashes; Acroosteolysis of distal phalanges (feet); Adrenal hypoplasia; Alopecia; Aminoaciduria; Angina pectoris; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brittle hair; Broad-based gait; Calcinosis; Choanal atresia; Congenital pseudoarthrosis of the clavicle; Convex nasal ridge; Craniofacial disproportion; Cyanosis; Decreased adipose tissue around neck; Decreased calvarial ossification; Decreased fetal movement; Decreased serum estradiol; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dermal atrophy; Dermal translucency; Downslanted palpebral fissures; Entropion; Epidermal hyperkeratosis; Failure to thrive; Flexion contracture; Generalized hyperkeratosis; Generalized lipodystrophy; Glucose intolerance; Hepatic steatosis; Heterogeneous; High palate; High pitched voice; Hydropic placenta; Hyperglycemia; Hyperinsulinemia; Hyperlipidemia; Hypermetropia; Hyperphosphatemia; Hyperpigmentation of the skin; Hypertelorism; Hypertension; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hypospadias; Hypotrichosis; Increased anterioposterior diameter of thorax; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intrauterine growth retardation; Joint stiffness; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Lack of skin elasticity; Large fontanelles; Lipoatrophy; Loss of facial adipose tissue; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Metaphyseal widening; Micrognathia; Mottled pigmentation; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Osteoarthritis; Osteolytic defects of the distal phalanges of the hand; Osteopenia; Osteoporosis; Overtubulated long bones; Ovoid vertebral bodies; Patent ductus arteriosus; Polyhydramnios; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature rupture of membranes; Progeroid facial appearance; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Proptosis; Pulmonary hypoplasia; Reticulated skin pigmentation; Rocker bottom foot; Scaling skin; Sensorineural hearing impairment; Short clavicles; Short distal phalanx of finger; Short nail; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short umbilical cord; Skin erosion; Small placenta; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Stiff skin; Stillbirth; Structural foot deformity; Submucous cleft hard palate; Tapering pointed ends of distal finger phalanges; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Ureteral duplication; Widely patent fontanelles and sutures; Wormian bonesHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
ZNF1483q21.2100%gene with protein product601897Abnormality of the pinna; Agenesis of corpus callosum; Autosomal dominant inheritance; Coarctation of aorta; Coarse facial features; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypermetropia; Hypoplasia of the corpus callosum; Intellectual disability; Low hanging columella; Microcephaly; Mitral stenosis; Patent ductus arteriosus; Pes planus; Phenotypic variability; Pointed chin; Poor speech; Renal cyst; Renal dysplasia; Respiratory insufficiency; Short palpebral fissure; Short stature; Smooth philtrum; Talipes equinovarus; Telecanthus; Triangular face; Upslanted palpebral fissure; Ventriculomegaly; Wide mouth
ZSWIM65q12.197.28%gene with protein product615951Agenesis of corpus callosum; Autosomal dominant inheritance; Bifid nose; Brachycephaly; Broad nasal tip; Choroid plexus cyst; Cleft palate; Cleft upper lip; Encephalocele; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Large sella turcica; Meningocele; Preaxial polydactyly; Retrocerebellar cyst; Seizures; Syndactyly; Talipes equinovarus; Telecanthus; Thick nail; Thick nasal alae; Ventriculomegaly


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