XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Small nail

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADAMTSL29q34.243.79%gene with protein product612277Anteverted nares; Aortic valve stenosis; Autosomal recessive inheritance; Camptodactyly of finger; Congestive heart failure; Coxa valga; Global developmental delay; Hepatomegaly; High pitched voice; Hypoplasia of the capital femoral epiphysis; Irregular capital femoral epiphysis; J-shaped sella turcica; Joint stiffness; Lack of skin elasticity; Long philtrum; Mitral stenosis; Osteopenia; Pectus excavatum; Round face; Seizures; Short foot; Short long bone; Short metacarpals with rounded proximal ends; Short nose; Short palm; Short stature; Small nail; Smooth philtrum; Thickened helices; Thickened skin; Tracheal stenosis; Tricuspid stenosis; Upslanted palpebral fissure; Wide mouth; Wrist flexion contracture
ALG33q27.1100%gene with protein product608750Abnormality of vision; Adducted thumb; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Bulbous nose; Cerebellar atrophy; Cerebral atrophy; Clinodactyly of the 5th toe; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Food intolerance; Global developmental delay; High palate; Hyperreflexia; Hypertonia; Hypsarrhythmia; Iris coloboma; Joint contracture of the hand; Long fingers; Macrotia; Microcephaly; Muscular hypotonia; Muscular hypotonia of the trunk; Nail dysplasia; Optic atrophy; Seizures; Severe visual impairment; Small nail; Strabismus; Talipes equinovarus; Type I transferrin isoform profile; Villous atrophy; Vomiting; Wide nasal bridge
ARHGAP313q13.32-q13.100%gene with protein product610911Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Alopecia; Aortic valve stenosis; Aplasia cutis congenita; Aplasia cutis congenita on trunk or limbs; Aplasia cutis congenita over posterior parietal area; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Brachydactyly; Calvarial skull defect; Cataract; Cleft palate; Cleft upper lip; Cortical dysplasia; Cutis marmorata; Encephalocele; Esotropia; Failure to thrive; Finger syndactyly; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypoplasia of the corpus callosum; Hypoplastic left heart; Imperforate hymen; Intellectual disability; Microcephaly; Microphthalmia; Pachygyria; Periventricular leukomalacia; Phenotypic variability; Polymicrogyria; Pulmonary arterial hypertension; Pulmonary artery atresia; Pulmonary artery stenosis; Pulmonic stenosis; Seizures; Short distal phalanx of finger; Small nail; Sparse hair; Split hand; Strabismus; Supernumerary nipple; Talipes; Talipes equinovarus; Tetralogy of Fallot; Toe syndactyly; Ventricular septal defect; Ventriculomegaly
ARID1A1p36.11100%gene with protein product603024C1orf4, SMARCF1Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Brachydactyly; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Feeding difficulties in infancy; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertrichosis; Hypoplastic fifth fingernail; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Low anterior hairline; Macroglossia; Microcephaly; Muscular hypotonia; Nystagmus; Recurrent respiratory infections; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Slow-growing hair; Small nail; Strabismus; Thick eyebrow; Thick lower lip vermilion; Visual impairment; Wide mouth; Wide nasal bridge; Wide nose
ATP6V1B28p21.3100%gene with protein product606939VPP3, ATP6B2Anonychia; Autosomal dominant inheritance; Bifid nasal tip; Brachydactyly; Congenital onset; Deep philtrum; Gingival overgrowth; Hidrotic ectodermal dysplasia; Macroglossia; Nail dystrophy; Phenotypic variability; Prominent nasal septum; Sensorineural hearing impairment; Short neck; Short stature; Small nail; Synophrys; Thick eyebrow; Thick vermilion border; Toe syndactyly; Underdeveloped nasal alae; Wide nasal bridgeEctodermal Dysplasia
BHLHA917p13.3100%gene with protein product6154162-3 toe syndactyly; 3-4 finger syndactyly; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the thumb; Aplasia/Hypoplasia of the tibia; Autosomal recessive inheritance; Camptodactyly; Clinodactyly of the 5th finger; Cutaneous syndactyly; Finger syndactyly; Limitation of joint mobility; Metacarpal synostosis; Polydactyly; Proximal/middle symphalangism of 5th finger; Short hallux; Short palm; Short thumb; Single transverse palmar crease; Small nail; Split hand; Symphalangism affecting the phalanges of the hallux; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Toenail dysplasia
CDH116q22.1100%gene with protein product192090UVOAbnormality of metabolism/homeostasis; Abnormality of vision; Autosomal dominant inheritance; Bilateral cleft lip and palate; Breast carcinoma; Carious teeth; Chronic atrophic gastritis; Cleft upper lip; Clinodactyly; Conductive hearing impairment; Conical tooth; Distichiasis; Dysgerminoma; Ectropion of lower eyelids; Endometrial carcinoma; Euryblepharon; Finger syndactyly; Hypertelorism; Hypodontia; Ovarian papillary adenocarcinoma; Small nail; Stomach cancerEctodermal Dysplasia
DOCK619p13.2100%gene with protein product614194Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Autosomal recessive inheritance; Brachydactyly; Bulbous nose; Calvarial skull defect; Cataract; Cutis marmorata; Depressed nasal bridge; Failure to thrive; Finger syndactyly; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Low anterior hairline; Low-set ears; Microcephaly; Micrognathia; Microphthalmia; Narrow palpebral fissure; Oligohydramnios; Pulmonary artery atresia; Seizures; Short distal phalanx of finger; Single transverse palmar crease; Small nail; Sparse hair; Split hand; Strabismus; Talipes; Tetralogy of Fallot
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
EVC4p16.299.83%gene with protein product604831Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC24p16.2100%gene with protein product607261Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
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
FTO16q12.2100%gene with protein product610966Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Cleft palate; Coarse facial features; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Failure to thrive; Global developmental delay; Hydrocephalus; Hypertonia; Hypertrophic cardiomyopathy; Intrauterine growth retardation; Lissencephaly; Macroglossia; Microcephaly; Obesity; Patent ductus arteriosus; Protruding tongue; Retrognathia; Seizures; Sensorineural hearing impairment; Short neck; Skull asymmetry; Small nail; Umbilical hernia; Ventricular septal defect
GDF520q11.22100%gene with protein product6011462-3 toe syndactyly; Abnormal finger flexion creases; Abnormality of epiphysis morphology; Abnormality of the ankles; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Abnormally shaped carpal bones; Absent toe; Acromesomelia; Aplasia of the middle phalanges of the toes; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the thumb; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly of the 5th finger; Cognitive impairment; Complete duplication of distal phalanx of the thumb; Conductive hearing impairment; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphysis; Cuboidal metacarpal; Death in infancy; Deformed tarsal bones; Delayed eruption of teeth; Deviation of finger; Disproportionate short-limb short stature; Distal femoral bowing; Elbow ankylosis; Elbow dislocation; Enlarged epiphysis of the middle phalanx of the 2nd finger; Enlarged epiphysis of the middle phalanx of the 3rd finger; Enlarged epiphysis of the proximal phalanx of the 2nd finger; Enlarged epiphysis of the proximal phalanx of the 3rd finger; Fibular aplasia; Fibular hypoplasia; Finger symphalangism; Flexion contracture; Hallux valgus; Hip dislocation; Hip dysplasia; Hip osteoarthritis; Humeroradial synostosis; Hypersegmentation of proximal phalanx of second finger; Hypersegmentation of proximal phalanx of third finger; Hypodontia; Hypoplasia of the radius; Hypoplasia of the ulna; Joint stiffness; Limitation of joint mobility; Madelung deformity; Malaligned carpal bone; Medially deviated second toe; Metacarpophalangeal synostosis; Micromelia; Narrow nasal bridge; Neurological speech impairment; Patellar dislocation; Pes planus; Pes valgus; Polydactyly; Postaxial hand polydactyly; Proximal symphalangism; Proximal/middle symphalangism of 5th finger; Pseudoepiphyses of the 2nd finger; Pseudoepiphyses of the 3rd finger; Radial bowing; Radial deviation of the 2nd finger; Rhizomelia; Sarcoma; Scoliosis; Sensorineural hearing impairment; Severe short-limb dwarfism; Short 1st metacarpal; Short 2nd finger; Short 3rd finger; Short digit; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short palm; Short phalanx of finger; Short stature; Short thumb; Short tibia; Short toe; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Single transverse palmar crease; Skeletal dysplasia; Small nail; Stillbirth; Stippling of the epiphysis of the distal phalanx of the thumb; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Talipes equinovalgus; Tarsal synostosis; Triangular epiphysis of the middle phalanx of the 2nd finger; Triangular epiphysis of the middle phalanx of the 3rd finger; Triangular epiphysis of the proximal phalanx of the 2nd finger; Triangular epiphysis of the proximal phalanx of the 3rd finger; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 3rd finger; Triangular shaped middle phalanx of the 5th finger; Triangular shaped proximal phalanx of the 2nd finger; Triangular shaped proximal phalanx of the 3rd finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Ulnar deviation of the 3rd finger; Valgus hand deformity; Vertebral fusion; Wide nose
GJB613q12.11100%gene with protein product604418DFNA3, ED2Abnormality of nail color; Abnormality of the dentition; Abnormality of the eyelashes; Absent axillary hair; Absent pubic hair; Adult onset sensorineural hearing impairment; Alopecia; Alopecia totalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Brittle hair; Cataract; Conductive hearing impairment; Conjunctivitis; Corneal neovascularization; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Erythema; Fine hair; Fragile nails; Furrowed tongue; Generalized hyperkeratosis; Generalized hyperpigmentation; Hearing impairment; Hyperconvex nail; Hyperpigmentation of the skin; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Hypotrichosis; Ichthyosis; Irregular hyperpigmentation; Keratitis; Macule; Nail dysplasia; Nail dystrophy; Onycholysis; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Photophobia; Progressive sensorineural hearing impairment; Recurrent bacterial skin infections; Sensorineural hearing impairment; Short stature; Skin ulcer; Slow-growing hair; Small nail; Sparse and thin eyebrow; Sparse axillary hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Stapes ankylosis; Strabismus; Thick nail; Variable expressivity; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
IHH2q35100%gene with protein product600726Absent distal interphalangeal creases; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad metacarpal epiphyses; Broad nail; Broad palm; Clinodactyly of the 5th finger; Cone-shaped capital femoral epiphysis; Cone-shaped epiphysis; Cone-shaped epiphysis of the 1st metacarpal; Cone-shaped metacarpal epiphyses; Coxa vara; Cupped ribs; Delayed ossification of carpal bones; Delayed skeletal maturation; Disproportionate short stature; Disproportionate short-limb short stature; Distal symphalangism of hands; Dysplasia of the femoral head; Enlargement of the distal femoral epiphysis; Fibular overgrowth; Flared iliac wings; Flattened metatarsal heads; Genu varum; Heterogeneous; Hyperlordosis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic iliac wing; Lumbar hyperlordosis; Micromelia; Narrow chest; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Proportionate shortening of all digits; Radial deviation of the 2nd finger; Radial deviation of the 3rd finger; Radial deviation of the 4th finger; Relative macrocephaly; Scoliosis; Short distal phalanx of finger; Short femoral neck; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short middle phalanx of finger; Short palm; Short proximal phalanx of finger; Short proximal phalanx of hallux; Short proximal phalanx of thumb; Short ribs; Short stature; Short thumb; Short tibia; Skeletal dysplasia; Slender metacarpals; Small nail; Thin proximal phalanges with broad epiphyses of the hand
KCNH11q32.2100%gene with protein product603305Absent nail of hallux; Adducted thumb; Aortic arch aneurysm; Aortic root aneurysm; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad hallux; Broad thumb; Cardiomyopathy; Cataract; Coarse facial features; Delayed eruption of teeth; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Flat forehead; Generalized hypotonia; Gingival fibromatosis; Gingival overgrowth; Global developmental delay; Growth abnormality; Hepatomegaly; High palate; Hirsutism; Hyperextensibility of the finger joints; Hypertelorism; Hypoplastic thumbnail; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Long penis; Long philtrum; Mandibular prognathia; Myopathic facies; Myopia; Patent ductus arteriosus; Posteriorly rotated ears; Pseudoepiphysis of the thumb; Scoliosis; Seizures; Short distal phalanx of finger; Short distal phalanx of toe; Small nail; Spina bifida occulta; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Umbilical hernia; Wide mouth; Wide nasal bridge; Wide nose
MCTP215q26.299.7%gene with protein product6162972-3 toe cutaneous syndactyly; Abnormal aortic arch morphology; Abnormal cardiac septum morphology; Abnormality of the dentition; Attention deficit hyperactivity disorder; Autistic behavior; Bicuspid aortic valve; Bifid tongue; Blepharophimosis; Broad nasal tip; Cleft palate; Coarctation of aorta; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Decreased serum insulin-like growth factor 1; Delayed speech and language development; Failure to thrive; Finger clinodactyly; Flat occiput; Generalized joint laxity; Genu valgum; Global developmental delay; Hearing impairment; Hip dislocation; Hypertelorism; Hypospadias; Intrauterine growth retardation; Low 1-minute APGAR score; Low-set ears; Microcephaly; Micrognathia; Micropenis; Mitral stenosis; Postnatal growth retardation; Pulmonary hypoplasia; Seizures; Short distal phalanx of finger; Short philtrum; Short stature; Small for gestational age; Small hand; Small nail; Strabismus; Talipes equinovarus; Thin upper lip vermilion; Triangular face; Upslanted palpebral fissure
MLXIPL7q11.2399.84%gene with protein product605678WBSCR14Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Broad nasal tip; Chronic constipation; Constipation; Coronary artery stenosis; Cutis laxa; Dental malocclusion; Depressed nasal bridge; Down-sloping shoulders; Enuresis; Epicanthus; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Glucose intolerance; Hallux valgus; Hoarse voice; Hyperacusis; Hyperreflexia; Hypodontia; Impaired visuospatial constructive cognition; Incoordination; Intellectual disability; Intrauterine growth retardation; Joint laxity; Kyphoscoliosis; Large earlobe; Long philtrum; Medial flaring of the eyebrow; Microdontia; Midface retrusion; Mitral regurgitation; Muscular hypotonia; Narrow forehead; Obesity; Obsessive-compulsive trait; Open mouth; Osteopenia; Osteoporosis; Pelvic kidney; Periorbital fullness; Peripheral pulmonary artery stenosis; Phonophobia; Poor coordination; Premature graying of hair; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Renal hypoplasia; Renal insufficiency; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Strabismus; Thick lower lip vermilion; Urethral stenosis; Vesicoureteral reflux
MPLKIP7p14.1100%gene with protein product609188C7orf11Autosomal recessive inheritance; Brittle hair; Concave nail; Decreased fertility; Global developmental delay; Growth delay; Intellectual disability; Macrotia; Microcephaly; Small nail; Sparse hair; Trichorrhexis nodosaPalmoplantar keratoderma plus congenital ichthyosis
MSX14p16.2100%gene with protein product142983HOX7Agenesis of permanent teeth; Autosomal dominant inheritance; Cleft palate; Cleft upper lip; Concave nail; Conical tooth; Delayed eruption of teeth; Everted lower lip vermilion; Fine hair; Fragile nails; Hypodontia; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic toenails; Microdontia; Microdontia of primary teeth; Micrognathia; Nail pits; Oligodontia; Ridged fingernail; Ridged nail; Small nail; Sparse hair; Thin toenailEctodermal Dysplasia
NECTIN41q23.3100%gene with protein productFormer name = PVRL4609607PVRL42-3 toe cutaneous syndactyly; Absent facial hair; Autosomal recessive inheritance; Coarse hair; Conical tooth; Cutaneous finger syndactyly; Ectodermal dysplasia; Hypoplasia of dental enamel; Hypoplastic toenails; Palmar hyperkeratosis; Patchy alopecia; Pili torti; Small nail; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Widely spaced teethEctodermal Dysplasia
NHP25q35.3100%gene with protein product606470NOLA2Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cirrhosis; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Growth delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticulated skin pigmentation; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Testicular atrophy; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
NOP1015q14100%gene with protein product606471NOLA3Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
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
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
PIGV1p36.11100%gene with protein product610274Abnormally large globe; Absent speech; Autosomal recessive inheritance; Generalized hypotonia; Highly arched eyebrow; Intellectual disability, severe; Long palpebral fissure; Malar flattening; Mandibular prognathia; Midface retrusion; Plagiocephaly; Posteriorly rotated ears; Short philtrum; Small nail; Tapered finger; Tented upper lip vermilion; Thin upper lip vermilion; Upslanted palpebral fissure
POC1A3p21.2100%gene with protein product614783WDR51AAutosomal recessive inheritance; Brachydactyly; Clinodactyly; Cone-shaped epiphysis; Disproportionate short stature; High pitched voice; Hypoplastic pelvis; Hypoplastic sacrum; Long face; Macrocephaly; Mandibular prognathia; Microcephaly; Microtia; Nail dysplasia; Oligospermia; Pointed chin; Prominent forehead; Prominent nose; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short metatarsal; Small for gestational age; Small hand; Small nail; Sparse hair; Triangular face; Waddling gaitHeterotaxy
PPM1D17q23.399.99%gene with protein product605100Anteverted nares; Anxiety; Attention deficit hyperactivity disorder; Autistic behavior; Autosomal dominant inheritance; Brachydactyly; Breast carcinoma; Broad forehead; Broad-based gait; Constipation; Delayed speech and language development; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperlordosis; Hypermetropia; Intellectual disability; Low-set ears; Obsessive-compulsive behavior; Posteriorly rotated ears; Short foot; Short stature; Small hand; Small nail; Strabismus; Thin upper lip vermilion; Vomiting; Wide mouth
RIPK421q22.3100%gene with protein product605706ANKRD3Absent eyebrow; Absent eyelashes; Absent thumb; Alopecia totalis; Ambiguous genitalia; Anal stenosis; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia of the distal phalanges of the toes; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Cleft palate; Cleft upper lip; Corneal opacity; Eyelid coloboma; Facial cleft; Finger syndactyly; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic toenails; Intellectual disability; Intrauterine growth retardation; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Narrow mouth; Popliteal pterygium; Short nose; Short phalanx of finger; Small nail; Sparse or absent eyelashes; Syndactyly; Synostosis of joints; Talipes; Toe syndactyly; Underdeveloped nasal alaeDisorders of Sex Development
RSPO11p34.3100%gene with protein product609595Autosomal recessive inheritance; Clitoral hypertrophy; Decreased testicular size; Gynecomastia; Hypercholesterolemia; Hypertriglyceridemia; Hypospadias; Laryngeal carcinoma; Nail dystrophy; Orthokeratotic hyperkeratosis; Ovotestis; Palmoplantar hyperhidrosis; Palmoplantar keratoderma; Premature loss of permanent teeth; Sclerodactyly; Sex reversal; Small nail; Squamous cell carcinoma of the skinDisorders of Sex Development; Palmoplantar keratoderma plus congenital ichthyosis
STAMBP2p13.1100%gene with protein product606247Abnormal hair whorl; Autosomal recessive inheritance; Brachydactyly; Cerebral atrophy; Cleft palate; Clinodactyly; Congenital onset; Delayed myelination; Failure to thrive; Generalized hypotonia; Hearing impairment; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Low-set ears; Myoclonus; Optic atrophy; Patent foramen ovale; Progressive microcephaly; Ptosis; Right ventricular hypertrophy; Seizures; Severe global developmental delay; Short distal phalanx of finger; Short nose; Sloping forehead; Small for gestational age; Small nail; Spastic tetraparesis; Ventricular septal defect; Wide nose
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
WDR7315q25.2100%gene with protein product616144Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Cognitive impairment; Diffuse mesangial sclerosis; Dysarthria; EEG abnormality; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the ear cartilage; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephropathy; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Premature birth; Progressive extrapyramidal movement disorder; Prominent nose; Proteinuria; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth
WNT10A2q35100%gene with protein product606268Abnormal toenail morphology; Abnormality of dental morphology; Abnormality of the eye; Abnormality of the fingernails; Alopecia; Anonychia; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal cell carcinoma; Bird-like facies; Dry hair; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Epidermal acanthosis; Erythema; Facial telangiectasia; Fine hair; Hypodontia; Hypohidrosis; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypotrichosis; Microdontia; Micrognathia; Nail dysplasia; Narrow nail; Oligodontia; Onycholysis; Palmoplantar hyperhidrosis; Palmoplantar keratoderma; Peg-shaped maxillary lateral incisors; Premature loss of primary teeth; Reduced number of teeth; Ridged nail; Small nail; Smooth tongue; Sparse hair; Squamous cell carcinoma; Thin nailEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ZNF59215q25.2100%gene with protein product613624SCAR5Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Diffuse mesangial sclerosis; Dysarthria; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Progressive extrapyramidal movement disorder; Prominent nose; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth


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