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
Sparse eyelashes

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALX112q21.31100%gene with protein product601527CART1Absent eyebrow; Autosomal recessive inheritance; Brachycephaly; Cleft palate; Facial cleft; Hypertelorism; Intellectual disability; Low-set, posteriorly rotated ears; Microphthalmia; Prominent glabella; Sparse eyelashes; Underdeveloped nasal alae; Upper eyelid coloboma; Wide nasal bridge
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
ANTXR12p13.398%gene with protein product606410Abnormal form of the vertebral bodies; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral vasculature; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the palate; Alopecia; Anteverted nares; Autosomal recessive inheritance; Breast hypoplasia; Broad forehead; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Early balding; Everted lower lip vermilion; Frontal bossing; Glaucoma; Growth delay; High forehead; Hyperextensible skin; Hypertelorism; Hypoplastic nipples; Hypotrichosis; Joint hyperflexibility; Keratoconus; Long philtrum; Low-set ears; Mandibular prognathia; Micrognathia; Midface retrusion; Nystagmus; Optic atrophy; Palpebral edema; Prematurely aged appearance; Prominent scalp veins; Protruding ear; Short stature; Skin tags; Sparse and thin eyebrow; Sparse eyelashes; Thick lower lip vermilion; Thick nasal alae; Tubulointerstitial fibrosis; Umbilical hernia; Underdeveloped supraorbital ridges; Unerupted tooth; Visual impairment; Wide anterior fontanel
APCDD118p11.22100%gene with protein product607479Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Hypotrichosis; Hypotrichosis of the scalp; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes
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
BANF111q13.1100%gene with protein product603811Abnormality of the forearm; Abnormality of the ribs; Atherosclerosis; Autosomal recessive inheritance; Convex nasal ridge; Delayed closure of the anterior fontanelle; Dental crowding; Failure to thrive; Flexion contracture; Joint stiffness; Lipoatrophy; Malar flattening; Micrognathia; Midface retrusion; Osteolytic defects of the distal phalanges of the hand; Osteoporosis; Progressive clavicular acroosteolysis; Proptosis; Pulmonary arterial hypertension; Right bundle branch block; Scoliosis; Short stature; Sinus tachycardia; Sparse and thin eyebrow; Sparse eyelashes; Spotty hyperpigmentation; Wide cranial sutures
CDH316q22.1100%gene with protein product114021Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the dentition; Abnormality of the nail; Abnormality of vision; Absent eyebrow; Autosomal recessive inheritance; Blindness; Brittle hair; Camptodactyly; Carious teeth; Cone/cone-rod dystrophy; Ectodermal dysplasia; Ectrodactyly; Fine hair; Finger syndactyly; Hypotrichosis; Joint contracture of the hand; Macular degeneration; Macular dystrophy; Microdontia; Pili torti; Reduced visual acuity; Retinopathy; Selective tooth agenesis; Short stature; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse scalp hair; Split hand; Syndactyly; Widely spaced teethEctodermal Dysplasia
CLDN13q28100%gene with protein product603718Abnormality of blood and blood-forming tissues; Alopecia; Autosomal recessive inheritance; Cholangitis; Dry skin; Epidermal acanthosis; Hepatomegaly; Hypodontia; Hypoplasia of dental enamel; Hypotrichosis; Hypotrichosis of the scalp; Ichthyosis; Jaundice; Oligodontia; Orthokeratosis; Parakeratosis; Scarring alopecia of scalp; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; SplenomegalyPalmoplantar keratoderma plus congenital ichthyosis
CLDN13q28100%gene with protein product603718Abnormality of blood and blood-forming tissues; Alopecia; Autosomal recessive inheritance; Cholangitis; Dry skin; Epidermal acanthosis; Hepatomegaly; Hypodontia; Hypoplasia of dental enamel; Hypotrichosis; Hypotrichosis of the scalp; Ichthyosis; Jaundice; Oligodontia; Orthokeratosis; Parakeratosis; Scarring alopecia of scalp; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; SplenomegalyPalmoplantar keratoderma plus congenital ichthyosis
DKC1Xq2899.99%gene with protein product300126DKCAbnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Acute myeloid leukemia; Alopecia; Anal mucosal leukoplakia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Blepharitis; Bone marrow hypocellularity; Carious teeth; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Conjunctivitis; Cryptorchidism; Decreased testicular size; Dermal atrophy; Epiphora; Esophageal stenosis; Esophageal stricture; Excessive wrinkled skin; Failure to thrive; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hodgkin lymphoma; Horseshoe kidney; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypertonia; Hypodontia; Hypopigmented skin patches; Hypospadias; Immunodeficiency; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Myelodysplasia; Nail dystrophy; Optic atrophy; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phimosis; Premature graying of hair; Premature loss of teeth; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Restrictive ventilatory defect; Reticulated skin pigmentation; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse eyelashes; Sparse hair; Sparse scalp hair; Split nail; Squamous cell carcinoma; Strabismus; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
DLX417q21.33100%gene with protein product601911DLX7, DLX9Agenesis of lateral incisor; Autosomal dominant inheritance; Bilateral cleft lip; Bilateral cleft palate; Bulbous nose; Cryptorchidism; Ectropion of lower eyelids; Epicanthus; Euryblepharon; High anterior hairline; Hypertelorism; Hyponasal speech; Low-set ears; Midface retrusion; Palate fistula; Protruding ear; Single transverse palmar crease; Sparse eyebrow; Sparse eyelashes; Upslanted palpebral fissure
DOLK9q34.11100%gene with protein product610746TMEM15Abnormal isoelectric focusing of serum transferrin; Abnormality of coagulation; Aplasia/Hypoplasia of the nipples; Autosomal recessive inheritance; Cerebral cortical atrophy; Cognitive impairment; Death in infancy; Dilated cardiomyopathy; Dry skin; Failure to thrive; Hepatomegaly; Hypoketotic hypoglycemia; Hypsarrhythmia; Ichthyosis; Lipoatrophy; Myalgia; Postnatal microcephaly; Seizures; Sparse and thin eyebrow; Sparse eyelashes; SplenomegalyPalmoplantar keratoderma plus congenital ichthyosis
DPH117p13.3100%gene with protein product603527DPH2L, DPH2L1Abnormality of the dentition; Autosomal recessive inheritance; Congenital onset; Craniosynostosis; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Global developmental delay; Hypertelorism; Hypoplastic toenails; Intellectual disability; Low-set ears; Micrognathia; Prominent forehead; Scaphocephaly; Short stature; Sparse eyebrow; Sparse eyelashes; Trigonocephaly; Ventricular septal defect
DSG418q12.1100%gene with protein product607892Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal recessive inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Hypotrichosis; Hypotrichosis of the scalp; Patchy alopecia; Pruritus; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashesPalmoplantar keratoderma plus congenital ichthyosis
DSG418q12.1100%gene with protein product607892Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal recessive inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Hypotrichosis; Hypotrichosis of the scalp; Patchy alopecia; Pruritus; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashesPalmoplantar keratoderma plus congenital ichthyosis
DSP6p24.3100%gene with protein product125647Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the nail; Acantholysis; Alopecia; Alopecia universalis; Anonychia; Aplasia cutis congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Clubbing of fingers; Congenital bullous ichthyosiform erythroderma; Congestive heart failure; Cough; Dilated cardiomyopathy; Exertional dyspnea; Failure to thrive; Fragile skin; Gastroesophageal reflux; Gingival recession; Ground-glass opacification on pulmonary HRCT; Heterogeneous; Honeycomb lung; Mitten deformity; Nail dysplasia; Nail dystrophy; Natal tooth; Neonatal death; Oral mucosal blisters; Palmoplantar keratoderma; Palmoplantar keratosis with erythema and scale; Parakeratosis; Patchy palmoplantar keratoderma; Phimosis; Pulmonary fibrosis; Rales; Reduced number of teeth; Reticular pattern on pulmonary HRCT; Right ventricular cardiomyopathy; Sandal gap; Skin erosion; Sparse and thin eyebrow; Sparse eyelashes; Sudden cardiac death; Tapered distal phalanges of finger; Ventricular extrasystoles; Ventricular fibrillation; Ventricular tachycardia; Widely spaced toes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
EBPXp11.23100%gene with protein product300205CDPX22-3 toe syndactyly; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the pinna; Abnormality of the thorax; Alopecia; Aortic valve stenosis; Bilateral talipes equinovarus; Cataract; Concave nasal ridge; Congenital ichthyosiform erythroderma; Congenital onset; Cryptorchidism; Dandy-Walker malformation; Downslanted palpebral fissures; Edema; Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Erythema; Erythroderma; Failure to thrive; Flat face; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hemiatrophy; Hemivertebrae; High palate; Hydrocephalus; Hydronephrosis; Hyperactivity; Ichthyosis; Intellectual disability; Intellectual disability, moderate; Joint dislocation; Kyphosis; Long fingers; Low-set ears; Malar flattening; Microphthalmia; Microretrognathia; Midface retrusion; Nystagmus; Optic atrophy; Overlapping fingers; Overlapping toe; Patellar dislocation; Phenotypic variability; Polydactyly; Polyhydramnios; Postnatal growth retardation; Prominent nasal bridge; Ptosis; Punctate vertebral calcifications; Scarring alopecia of scalp; Scoliosis; Seizures; Short neck; Short stature; Sparse and thin eyebrow; Sparse eyelashes; Stippled calcification in carpal bones; Tarsal stippling; Tracheal calcification; Tracheal stenosis; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
EDAXq13.199.08%gene with protein product300451ED1, EDA2, ODT1, EDA1Abnormality of oral mucosa; Absent eyebrow; Absent nipple; Anhidrosis; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Brittle hair; Concave nail; Conical tooth; Delayed eruption of teeth; Depressed nasal bridge; Depressed nasal ridge; Dry skin; Dysphonia; Eczema; Everted lower lip vermilion; Everted upper lip vermilion; Fever; Frontal bossing; Heat intolerance; Heterogeneous; Hoarse voice; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of the maxilla; Hypoplastic nipples; Hypoplastic-absent sebaceous glands; Hypotrichosis; Microdontia; Micrognathia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Prominent supraorbital ridges; Respiratory distress; Short chin; Short nose; Soft skin; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Taurodontia; Thick vermilion border; Thin skin; Underdeveloped nasal alae; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia
EDAR2q13100%gene with protein product604095ED3, DLAbnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypotrichosis; Microdontia; Nail dysplasia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Thick vermilion border; Thin skinEctodermal Dysplasia
EDAR2q13100%gene with protein product604095ED3, DLAbnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypotrichosis; Microdontia; Nail dysplasia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Thick vermilion border; Thin skinEctodermal Dysplasia
EDARADD1q42.3-q43100%gene with protein product606603Abnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Abnormality of the forehead; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Conical tooth; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic nipples; Hypotrichosis; Microdontia; Micrognathia; Nail dysplasia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Recurrent respiratory infections; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Thick vermilion border; Thin skin; XerostomiaEctodermal Dysplasia
EDARADD1q42.3-q43100%gene with protein product606603Abnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Abnormality of the forehead; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Conical tooth; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic nipples; Hypotrichosis; Microdontia; Micrognathia; Nail dysplasia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Recurrent respiratory infections; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Thick vermilion border; Thin skin; XerostomiaEctodermal Dysplasia
EDARADD1q42.3-q43100%gene with protein product606603Abnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Abnormality of the forehead; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Conical tooth; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic nipples; Hypotrichosis; Microdontia; Micrognathia; Nail dysplasia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Recurrent respiratory infections; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Thick vermilion border; Thin skin; XerostomiaEctodermal Dysplasia
EDNRA4q31.22-q31.100%gene with protein product131243Autosomal dominant inheritance; Cleft palate; Conductive hearing impairment; Cupped ear; Delayed eruption of primary teeth; Dental crowding; Everted lower lip vermilion; Facial asymmetry; Hypoplasia of the maxilla; Low-set ears; Mandibulofacial dysostosis; Micrognathia; Protruding ear; Sparse and thin eyebrow; Sparse eyelashes; Stenosis of the external auditory canal; Trismus; Wide nasal bridge
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders 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
GJB213q12.11100%gene with protein product121011DFNB1, DFNA3Abnormality of corneal stroma; Abnormality of the eyelashes; Absent eyelashes; Alopecia; Amniotic constriction ring; Aplasia/Hypoplasia of the eyebrow; Autoamputation of digits; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cognitive impairment; Conductive hearing impairment; Corneal neovascularization; Corneal scarring; Corneal ulceration; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Elbow flexion contracture; Erythema; Erythroderma; Fine hair; Furrowed tongue; Generalized hyperkeratosis; Hearing impairment; Honeycomb palmoplantar keratoderma; Hyperkeratosis; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Ichthyosis; Infantile onset; Keratitis; Keratoconjunctivitis sicca; Knee flexion contracture; Leukonychia; Macule; Nail dysplasia; Nail dystrophy; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Pes cavus; Photophobia; Progressive sensorineural hearing impairment; Punctate keratitis; Recurrent bacterial skin infections; Recurrent corneal erosions; Scarring alopecia of scalp; Sensorineural hearing impairment; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Squamous cell carcinoma; Stapes ankylosis; Subcutaneous nodule; Trichiasis; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
GJB213q12.11100%gene with protein product121011DFNB1, DFNA3Abnormality of corneal stroma; Abnormality of the eyelashes; Absent eyelashes; Alopecia; Amniotic constriction ring; Aplasia/Hypoplasia of the eyebrow; Autoamputation of digits; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cognitive impairment; Conductive hearing impairment; Corneal neovascularization; Corneal scarring; Corneal ulceration; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Elbow flexion contracture; Erythema; Erythroderma; Fine hair; Furrowed tongue; Generalized hyperkeratosis; Hearing impairment; Honeycomb palmoplantar keratoderma; Hyperkeratosis; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Ichthyosis; Infantile onset; Keratitis; Keratoconjunctivitis sicca; Knee flexion contracture; Leukonychia; Macule; Nail dysplasia; Nail dystrophy; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Pes cavus; Photophobia; Progressive sensorineural hearing impairment; Punctate keratitis; Recurrent bacterial skin infections; Recurrent corneal erosions; Scarring alopecia of scalp; Sensorineural hearing impairment; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Squamous cell carcinoma; Stapes ankylosis; Subcutaneous nodule; Trichiasis; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
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
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
HR8p21.3100%gene with protein product602302ALUNCAbnormality of metabolism/homeostasis; Absent eyebrow; Absent eyelashes; Alopecia; Alopecia areata; Alopecia universalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse hair; Generalized papillary lesions; Hypotrichosis; Pili torti; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse or absent eyelashes; Sparse scalp hairCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia ; Obesity
ITGA317q21.33100%gene with protein product605025MSK18Autosomal recessive inheritance; Decreased glomerular filtration rate; Fine hair; Fragile skin; Gynecomastia; Hypertelorism; Hypoalbuminemia; Macrotia; Microcephaly; Narrow chest; Narrow mouth; Neonatal respiratory distress; Phenotypic variability; Prominent forehead; Proteinuria; Renal insufficiency; Respiratory acidosis; Round face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Tubular atrophyNephrotic Syndrome
KANK219p13.2100%gene with protein product614610MXRA3, ANKRD25Autosomal recessive inheritance; Palmoplantar keratoderma; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse scalp hair; Woolly hair; Woolly scalp hairNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
KREMEN122q12.1100%gene with protein product609898KREMENAutosomal recessive inheritance; Low anterior hairline; Sparse eyelashes; Thin eyebrowEctodermal Dysplasia
KRT2517q21.2100%gene with protein product616646KRT25AAutosomal recessive inheritance; Brittle hair; Curly hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Slow-growing hair; Sparse eyelashes; Sparse scalp hair; Trichorrhexis nodosa; Woolly hair
KRT7412q13.1399.97%gene with protein product608248Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Coarse hair; Dry hair; Dystrophic fingernails; Dystrophic toenail; Fine hair; Hair-nail ectodermal dysplasia; Hypopigmentation of hair; Hypotrichosis; Hypotrichosis of the scalp; Onycholysis; Slow-growing hair; Sparse and thin eyebrow; Sparse eyelashes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
LIPH3q27.299.96%gene with protein product607365Alopecia; Autosomal recessive inheritance; Brittle hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Hypotrichosis of the scalp; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
LIPH3q27.299.96%gene with protein product607365Alopecia; Autosomal recessive inheritance; Brittle hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Hypotrichosis of the scalp; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
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
LPAR613q14.2100%gene with protein product609239P2RY5Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Coarse hair; Fair hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Hypotrichosis of the scalp; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Woolly hairPalmoplantar keratoderma plus congenital ichthyosis
MBTPS2Xp22.12100%gene with protein product300294KFSDAbnormal morphology of the nasolacrimal system; Abnormal vertebral morphology; Abnormality of the eyelashes; Abnormality of the fingernails; Abnormality of the ribs; Absent eyebrow; Absent eyelashes; Aganglionic megacolon; Alopecia; Alopecia totalis; Anhidrosis; Ankylosis; Blepharitis; Brain atrophy; Carious teeth; Cleft palate; Congenital onset; Conjunctivitis; Convex nasal ridge; Corneal dystrophy; Corneal erosion; Cryptorchidism; Decreased testicular size; Dementia; Developmental regression; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Ectropion; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Facial erythema; Failure to thrive; Feeding difficulties; Follicular hyperkeratosis; Folliculitis; Global developmental delay; Hearing impairment; Heat intolerance; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperconvex fingernails; Hyperkeratosis; Hypodontia; Hypohidrosis; Hypoplasia of the bladder; Hypoplasia of the corpus callosum; Hypoplastic fingernail; Hypotrichosis; Ichthyosis; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Keratitis; Low-set ears; Microcephaly; Microphthalmia; Multicystic kidney dysplasia; Nail dysplasia; Nail dystrophy; Neonatal death; Oligohydramnios; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic nerve hypoplasia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Parakeratosis; Perifollicular fibrosis; Photophobia; Plagiocephaly; Postaxial hand polydactyly; Protruding ear; Recurrent bacterial infections; Recurrent corneal erosions; Recurrent respiratory infections; Renal dysplasia; Renal hypoplasia; Scaling skin; Scarring alopecia of scalp; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Skin fissure; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Specific learning disability; Subungual hyperkeratosis; Thin eyebrow; Thin fingernail; Umbilical hernia; Unilateral chest hypoplasia; Unilateral renal agenesis; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
NECTIN111q23.3100%gene with protein productFormer name = PVRL1600644HVEC, ED4, PVRL1Abnormality of dental morphology; Abnormality of hair texture; Abnormality of the ear; Abnormality of the philtrum; Alopecia; Anodontia; Autosomal recessive inheritance; Bilateral cleft lip and palate; Bilateral single transverse palmar creases; Carious teeth; Cleft palate; Cleft upper lip; Cutaneous finger syndactyly; Cutaneous syndactyly of toes; Downslanted palpebral fissures; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Finger syndactyly; Highly arched eyebrow; Hypodontia; Hypogonadism; Hypoplasia of the zygomatic bone; Intellectual disability; Macrotia; Malar flattening; Microdontia; Micrognathia; Midface retrusion; Nail dysplasia; Neurological speech impairment; Palmoplantar hyperkeratosis; Pili torti; Progressive hypotrichosis; Protruding ear; Recurrent respiratory infections; Scrotal hypoplasia; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Synophrys; Toe syndactyly; Triangular face; Wide intermamillary distance; Wide nasal bridgeEctodermal 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
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate. This gene is available on our menu: https://www.genedx.com/test-catalog/available-tests/rmrp-gene-sequencing-1/157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
RPL2113q12.299.75%gene with protein product603636Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Hypotrichosis; Hypotrichosis of the scalp; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse or absent eyelashes
SAT1Xp22.1199.89%gene with protein product313020SATBlepharitis; Conjunctivitis; Corneal dystrophy; Dry skin; Dystrophic fingernails; Ectropion; Facial erythema; Follicular hyperkeratosis; Folliculitis; Heterogeneous; Keratitis; Nail dysplasia; Palmoplantar keratoderma; Perifollicular fibrosis; Photophobia; Scarring alopecia of scalp; Sparse and thin eyebrow; Sparse eyelashes; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
SNRPE1q32.199.83%gene with protein product128260Absent axillary hair; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Hypotrichosis; Hypotrichosis of the scalp; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse or absent eyelashes
SOX1820q13.3399.87%gene with protein product601618Abnormality of the dentition; Abnormality of the lymphatic system; Abnormality of the nail; Absent eyebrow; Absent eyelashes; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Chronic kidney disease; Congenital onset; Cutis marmorata; Epicanthus; Epidermal hyperkeratosis; Facial telangiectasia in butterfly midface distribution; Hydrocele testis; Hypotrichosis; Long nose; Lymphedema; Mandibular prognathia; Membranoproliferative glomerulonephritis; Nonimmune hydrops fetalis; Oval face; Palmar telangiectasia; Palpebral edema; Plantar telangiectasia; Predominantly lower limb lymphedema; Progressive; Prominent nasal bridge; Pulmonary lymphangiectasia; Reduced subcutaneous adipose tissue; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse scalp hair; Telangiectasia of extensor surfaces; Thick vermilion border; Thin skin; Wide nasal bridge
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
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
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
TRPS18q23.3100%gene with protein product604386Abnormality of the nervous system; Abnormally low-pitched voice; Accelerated bone age after puberty; Aplasia/Hypoplasia of the mandible; Arthralgia; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bone pain; Bulbous nose; Camptodactyly of finger; Carious teeth; Chin with horizontal crease; Clinodactyly of the 5th finger; Concave nail; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphyses of the proximal phalanges of the hand; Cone-shaped epiphysis; Coxa magna; Deep philtrum; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Fine hair; Flat capital femoral epiphysis; Fragile nails; Frontal bossing; Generalized hypotonia; High palate; Hyperlordosis; Increased number of teeth; Infantile muscular hypotonia; Intellectual disability; Ivory epiphyses of the distal phalanges of the hand; Joint dislocation; Joint hyperflexibility; Leukonychia; Long philtrum; Long upper lip; Low-set, posteriorly rotated ears; Macrotia; Microdontia; Micrognathia; Multiple long-bone exostoses; Muscular hypotonia; Narrow palate; Osteoarthritis; Osteopenia; Pear-shaped nose; Pectus carinatum; Pes planus; Protruding ear; Recurrent respiratory infections; Redundant skin; Scapular winging; Scoliosis; Short distal phalanx of finger; Short finger; Short foot; Short metacarpal; Short metatarsal; Short palm; Short phalanx of finger; Short stature; Shortening of all phalanges of fingers; Slow-growing hair; Smooth philtrum; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Swelling of proximal interphalangeal joints; Thick eyebrow; Thin eyebrow; Thin nail; Thin upper lip vermilion; Triangular face; Underdeveloped nasal alae
VAC1416q22.1-q22.100%gene with protein product604632TAX1BP2Abnormal pelvis bone morphology; Abnormality of dental structure; Abnormality of the occipital bone; Abnormality of the parietal bone; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Anteverted nares; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Arrhinencephaly; Autosomal recessive inheritance; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Craniofacial dystonia; Decreased skull ossification; Delayed speech and language development; Developmental regression; Dolichocephaly; Drooling; Dysphagia; Generalized neonatal hypotonia; Global developmental delay; High forehead; High, narrow palate; Hyperreflexia; Hypertelorism; Hypertonia; Hypoplasia of the frontal lobes; Hypospadias; Loss of ability to walk; Low-set ears; Metatarsus adductus; Micrognathia; Micropenis; Neuronal loss in central nervous system; Pachygyria; Postnatal growth retardation; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Redundant neck skin; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Short chin; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Syndactyly; Tapered finger; Thin vermilion border; Unsteady gait; Upslanted palpebral fissure; Ventricular septal defect; Wide cranial sutures
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


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