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Phenotypes
Congenital hip dislocation

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALDH18A110q24.1100%gene with protein product138250GSAS, PYCS, SPG9Abnormal facial shape; Abnormal upper motor neuron morphology; Abnormality of pelvic girdle bone morphology; Adducted thumb; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bowel diverticulosis; Brachycephaly; Brisk reflexes; Broad forehead; Carpal bone hypoplasia; Cataract; Congenital cataract; Congenital hip dislocation; Corneal arcus; Corneal opacity; Cutis laxa; Delayed cranial suture closure; Delayed skeletal maturation; Dysarthria; Dysfunction of lateral corticospinal tracts; Failure to thrive; Feeding difficulties; Frontal bossing; Full cheeks; Gait disturbance; Gastroesophageal reflux; Generalized amyotrophy; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hernia; Hiatus hernia; Hip dislocation; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypotelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Microcephaly; Motor polyneuropathy; Myopia; Narrow mouth; Narrow nasal ridge; Pectus excavatum; Pes cavus; Premature skin wrinkling; Progressive; Prominent forehead; Prominent superficial blood vessels; Protruding ear; Redundant skin; Scoliosis; Seizures; Severe short stature; Short stature; Skeletal muscle atrophy; Slow progression; Sparse hair; Spastic paraplegia; Specific learning disability; Sporadic; Strabismus; Talipes equinovarus; Thin skin; Triangular face; Umbilical hernia; Urinary retention; Vomiting; Wide cranial sutures; Wormian bones
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
ATP6V1A3q13.3199.95%gene with protein product607027VPP2, ATP6A1, ATP6V1A1Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Dandy-Walker malformation; Decreased muscle mass; Delayed closure of the anterior fontanelle; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Fragmented elastic fibers in the dermis; Generalized joint laxity; Global developmental delay; High myopia; High palate; Hypertelorism; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability, profound; Intrauterine growth retardation; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Motor delay; Pachygyria; Polymicrogyria; Poor speech; Postnatal growth retardation; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Redundant neck skin; Seizures; Short nose; Short stature; Smooth philtrum; Sparse hair; Spasticity; Strabismus; Subretinal pigment epithelium hemorrhage; Thick cerebral cortex; Thick hair
ATP6V1E122q11.21100%gene with protein product108746ATP6E, ATP6V1EAbnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Aortic regurgitation; Atrial septal defect; Autosomal recessive inheritance; Bilateral cryptorchidism; Broad columella; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Dandy-Walker malformation; Decreased body weight; Decreased muscle mass; Delayed closure of the anterior fontanelle; Delayed speech and language development; Dementia; Dental crowding; Disproportionate tall stature; Downslanted palpebral fissures; Entropion; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Fragmented elastic fibers in the dermis; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hand clenching; High myopia; High palate; Hip dysplasia; Hypertelorism; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability, profound; Intrauterine growth retardation; Joint laxity; Knee flexion contracture; Kyphoscoliosis; Laryngomalacia; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Mitral valve prolapse; Motor delay; Narrow naris; Nystagmus; Pachygyria; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Reduced subcutaneous adipose tissue; Redundant neck skin; Seizures; Short nose; Short stature; Smooth philtrum; Sparse hair; Spasticity; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Tricuspid regurgitation
CHRM31q43100%gene with protein product118494Abnormal heart morphology; Abnormality of the ribs; Abnormality of the skin; Anal atresia; Aplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the lungs; Autosomal recessive inheritance; Congenital hip dislocation; Congenital posterior urethral valve; Constipation; Cryptorchidism; Decreased fertility; Decreased testicular size; Hydronephrosis; Hydroureter; Multicystic kidney dysplasia; Oligohydramnios; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Prune belly; Recurrent respiratory infections; Recurrent urinary tract infections; Renal insufficiency; Talipes equinovarus; Vesicoureteral reflux; XerostomiaCongenital Kidney and Urinary Tract (CKUT) Anomalies
DHODH16q22.2100%gene with protein product126064Abnormal dermatoglyphics; Abnormality of cardiovascular system morphology; Abnormality of the foot; Abnormality of the kidney; Autosomal recessive inheritance; Camptodactyly of finger; Choanal atresia; Cleft palate; Cleft upper lip; Conductive hearing impairment; Congenital hip dislocation; Conical tooth; Cryptorchidism; Cupped ear; Downslanted palpebral fissures; Ectropion; Ectropion of lower eyelids; Eyelid coloboma; Finger syndactyly; Hypoplasia of the radius; Hypoplasia of the ulna; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Micrognathia; Micropenis; Microtia; Midgut malrotation; Non-midline cleft lip; Pectus excavatum; Postnatal growth retardation; Pyloric stenosis; Radioulnar synostosis; Short thumb; Supernumerary nipple; Supernumerary vertebrae; Syndactyly
EYA18q13.3100%gene with protein product601653BORAbnormal dermatoglyphics; Abnormality of the antihelix; Abnormality of the cerebrum; Abnormality of the clavicle; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Anteverted nares; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Cochlear malformation; Conductive hearing impairment; Congenital hip dislocation; Cupped ear; Delayed skeletal maturation; Depressed nasal bridge; Dilatated internal auditory canal; Down-sloping shoulders; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Full cheeks; Global developmental delay; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hyperreflexia; Hypertonia; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Long face; Long neck; Low-set ears; Macrotia; Microdontia; Microtia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Narrow nose; Neurological speech impairment; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Protruding ear; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Retrognathia; Scapular winging; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
FHL1Xq26.3100%gene with protein product300163Abnormality of the voice; Adult onset; Areflexia; Arrhythmia; Back pain; Brachyturricephaly; Broad nail; Broad palm; Camptodactyly of toe; Cardiomyopathy; Congenital hip dislocation; Dislocation of toes; Downslanted palpebral fissures; Elevated serum creatine phosphokinase; Everted lower lip vermilion; Flexion contracture; Foot dorsiflexor weakness; Frequent falls; Hallux valgus; Hyperlordosis; Hypertrophic cardiomyopathy; Hyporeflexia; Increased variability in muscle fiber diameter; Joint contracture of the hand; Kyphosis; Limited elbow movement; Low-set ears; Lower limb muscle weakness; Marked muscular hypertrophy; Mitral regurgitation; Myofibrillar myopathy; Posteriorly rotated ears; Progressive; Progressive pes cavus; Prominent supraorbital ridges; Proximal muscle weakness; Pugilistic facies; Rapidly progressive; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scapular winging; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Short neck; Skeletal muscle atrophy; Spinal rigidity; Steppage gait; Synophrys; Ventricular hypertrophy; Waddling gait; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritanceRhabdomyolysis
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
HSPG21p36.1299.87%gene with protein product142461SJS1Abnormal eyebrow morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of femoral epiphysis; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the metaphysis; Abnormality of the pharynx; Anisospondyly; Anterior bowing of long bones; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blepharophimosis; Blue sclerae; Bowing of the long bones; Calvarial skull defect; Cataract; Cleft palate; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal ridge; Disproportionate short-limb short stature; Elevated aldolase level; Elevated serum creatine phosphokinase; EMG abnormality; Everted lower lip vermilion; Flat face; Flexion contracture of toe; Full cheeks; Gait disturbance; Generalized hirsutism; Genu valgum; High palate; High pitched voice; Hip contracture; Hip dysplasia; Hyperlordosis; Hypertonia; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint stiffness; Kyphoscoliosis; Kyphosis; Long eyelashes in irregular rows; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Mask-like facies; Metaphyseal widening; Metatarsus valgus; Microcornea; Micrognathia; Micromelia; Muscle weakness; Myopathy; Myopia; Myotonia; Narrow chest; Narrow mouth; Neonatal death; Osteoporosis; Overfolded helix; Overgrowth; Pectus carinatum; Pes planus; Platyspondyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonary hypoplasia; Pursed lips; Respiratory insufficiency; Scoliosis; Short long bone; Short neck; Short stature; Shoulder flexion contracture; Skeletal dysplasia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spinal rigidity; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Trismus; Umbilical hernia; Visual impairment; Weak voice; Wide nasal bridge; Wrist flexion contracture
IARS21q4199.96%gene with protein product612801Achalasia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cataract; Cervical spinal canal stenosis; Congenital cataract; Congenital hip dislocation; Depressed nasal bridge; Distal sensory impairment; Fasting hypoglycemia; Flexion contracture; Genu valgum; Growth hormone deficiency; Hip dislocation; Hyporeflexia; Long philtrum; Motor delay; Narrow mouth; Nystagmus; Osteopenia; Periarticular subcutaneous nodules; Peripheral neuropathy; Prelingual sensorineural hearing impairment; Progressive sensorineural hearing impairment; Prominent forehead; Scoliosis; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory neuropathy; Short stature; Spinal canal stenosis; Spondyloepiphyseal dysplasia; Thick eyebrow; Thoracic kyphoscoliosis
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KDM6AXp11.399.9%gene with protein product300128UTXAbnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the breast; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Behavioral abnormality; Blue sclerae; Broad nasal tip; Butterfly vertebrae; Cafe-au-lait spot; Central hypotonia; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Decreased body weight; Dental malocclusion; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Neonatal hypoglycemia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth; X-linked dominant inheritance
KIF2216p11.2100%gene with protein product603213KNSL4Abnormal calcification of the carpal bones; Abnormality of the patella; Abnormality of the sacrum; Anteverted nares; Autosomal dominant inheritance; Broad distal phalanx of finger; Carpal bone hypoplasia; Caudal interpedicular narrowing; Congenital hip dislocation; Delayed patellar ossification; Delayed phalangeal epiphyseal ossification; Depressed nasal bridge; Dislocated radial head; Enlarged thorax; Flared metaphysis; Flat capital femoral epiphysis; Frontal bossing; Generalized hypotonia; Genu valgum; Global developmental delay; Hip dislocation; Hypoplasia of the capital femoral epiphysis; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Joint laxity; Kyphosis; Large joint dislocations; Laryngeal stenosis; Laryngotracheomalacia; Long distal phalanx of finger; Long proximal phalanx of finger; Macrocephaly; Malar flattening; Metaphyseal irregularity; Micromelia; Midface retrusion; Nail dysplasia; Narrow femoral neck; Osteoarthritis; Platyspondyly; Posterior scalloping of vertebral bodies; Scoliosis; Short nose; Short stature; Skeletal dysplasia; Slender distal phalanx of finger; Slender metacarpals; Slender proximal phalanx of finger; Small epiphyses; Soft skin; Spinal dysraphism; Spondyloepimetaphyseal dysplasia; Streaky metaphyseal sclerosis; Wide nose
KMT2D12q13.12100%gene with protein product602113TNRC21, MLL2Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Blue sclerae; Butterfly vertebrae; Cafe-au-lait spot; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth
LONP119p13.2100%gene with protein product605490PRSS15Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Anteverted nares; Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Brachydactyly; Broad skull; Cataract; Congenital cataract; Congenital hip dislocation; Coronal cleft vertebrae; Crumpled ear; Delayed eruption of teeth; Delayed ossification of carpal bones; Delayed skeletal maturation; Depressed nasal bridge; Epicanthus; Flat face; Generalized hypotonia; Genu valgum; Global developmental delay; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the odontoid process; Joint hyperflexibility; Metaphyseal dysplasia; Midline defect of the nose; Muscular hypotonia; Overfolded helix; Pes valgus; Polyhydramnios; Ptosis; Scoliosis; Sensorineural hearing impairment; Short humerus; Short metacarpal; Short nose; Short phalanx of finger; Short stature; Squared iliac bones; Ventricular septal defect; Vocal cord paresis
LONP119p13.2100%gene with protein product605490PRSS15Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Anteverted nares; Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Brachydactyly; Broad skull; Cataract; Congenital cataract; Congenital hip dislocation; Coronal cleft vertebrae; Crumpled ear; Delayed eruption of teeth; Delayed ossification of carpal bones; Delayed skeletal maturation; Depressed nasal bridge; Epicanthus; Flat face; Generalized hypotonia; Genu valgum; Global developmental delay; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the odontoid process; Joint hyperflexibility; Metaphyseal dysplasia; Midline defect of the nose; Muscular hypotonia; Overfolded helix; Pes valgus; Polyhydramnios; Ptosis; Scoliosis; Sensorineural hearing impairment; Short humerus; Short metacarpal; Short nose; Short phalanx of finger; Short stature; Squared iliac bones; Ventricular septal defect; Vocal cord paresis
MAP3K76q15100%gene with protein product602614TAK1Abnormal form of the vertebral bodies; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the metaphysis; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Bowing of the long bones; Brachydactyly; Broad nasal tip; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital sensorineural hearing impairment; Craniofacial hyperostosis; Decreased testicular size; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Failure of eruption of permanent teeth; Failure to thrive; Freckling; Full cheeks; Fused cervical vertebrae; Gastroesophageal reflux; High palate; High, narrow palate; Hip contracture; Hypertelorism; Hypoplasia of the musculature; Irregular metacarpals; Joint laxity; Joint stiffness; Long fingers; Long metacarpals; Long philtrum; Micrognathia; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Patent ductus arteriosus; Patent foramen ovale; Pointed chin; Posterior vertebral hypoplasia; Posteriorly rotated ears; Prominent supraorbital ridges; Pseudoepiphyses; Pulmonic stenosis; Recurrent otitis media; Reduced number of teeth; Rib fusion; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short foot; Short metacarpal; Short metatarsal; Short palm; Short philtrum; Short stature; Strabismus; Subglottic stenosis; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Telecanthus; Thick eyebrow; Tracheal stenosis; Ulnar deviation of finger; Ulnar deviation of the hand; Upslanted palpebral fissure; Vesicoureteral reflux; Wide nasal bridge
MKKS20p12.2100%gene with protein product604896BBS6Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Aganglionic megacolon; Anal atresia; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Congenital hip dislocation; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Edema; Edema of the lower limbs; External genital hypoplasia; Foot polydactyly; Gait imbalance; Glandular hypospadias; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hydrometrocolpos; Hydronephrosis; Hydroureter; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Left ventricular hypertrophy; Mesoaxial hand polydactyly; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Poor coordination; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Rectovaginal fistula; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; Syndactyly; Transverse vaginal septum; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistulaBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
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
PIEZO218p11.22-p1199.81%gene with protein product613629FAM38B2, C18orf30, C18orf58, FAM38BAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the rib cage; Abnormality of the sternum; Absent palmar crease; Absent phalangeal crease; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Arachnodactyly; Areflexia; Arthrogryposis multiplex congenita; Astigmatism; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral talipes equinovarus; Blepharophimosis; Broad-based gait; Camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cerebellar hypoplasia; Cleft palate; Clinodactyly; Congenital contracture; Congenital finger flexion contractures; Congenital hip dislocation; Cryptorchidism; Cutaneous finger syndactyly; Dandy-Walker malformation; Decreased facial expression; Decreased hip abduction; Decreased muscle mass; Decreased palmar creases; Deeply set eye; Deviation of finger; Dextrocardia; Dimple chin; Distal arthrogryposis; Down-sloping shoulders; Duane anomaly; Dysarthria; Epicanthus; Facial asymmetry; Failure to thrive; Feeding difficulties; Firm muscles; Fixed facial expression; Generalized hypotonia; Global developmental delay; High palate; High, narrow palate; Hip dysplasia; Hypertelorism; Hypoplasia of the brainstem; Hypospadias; Inability to walk; Inferior vermis hypoplasia; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint stiffness; Keratoconus; Keratoglobus; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limited wrist extension; Long nose; Long philtrum; Low-set ears; Lumbar hyperlordosis; Macrotia; Mask-like facies; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Motor delay; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Narrow mouth; Ophthalmoplegia; Optic atrophy; Overlapping toe; Pectus carinatum; Pectus excavatum; Pes planus; Poor head control; Posteriorly rotated ears; Postnatal growth retardation; Primitive reflex; Progressive; Protruding ear; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Radioulnar synostosis; Renal hypoplasia; Respiratory insufficiency; Restrictive ventilatory defect; Retrognathia; Scoliosis; Seizures; Sensory ataxia; Sensory axonal neuropathy; Severe short stature; Short neck; Short palpebral fissure; Short phalanx of finger; Short stature; Single transverse palmar crease; Skeletal muscle atrophy; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes; Talipes equinovarus; Thin upper lip vermilion; Thoracolumbar scoliosis; Triangular face; Ulnar deviation of the hand or of fingers of the hand; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Zollinger-Ellison syndrome
PORCNXp11.2399.99%gene with protein product300651DHOFAbnormal palmar dermatoglyphics; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the larynx; Abnormality of the middle ear; Abnormality of the nail; Abnormality of the pinna; Absent fingernail; Absent toenail; Agenesis of corpus callosum; Alopecia; Aniridia; Anophthalmia; Anteriorly placed anus; Arnold-Chiari malformation; Bifid ureter; Brachydactyly; Brittle hair; Broad nasal tip; Camptodactyly of finger; Chorioretinal coloboma; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypoplasia; Cognitive impairment; Congenital diaphragmatic hernia; Congenital hip dislocation; Corneal opacity; Cryptorchidism; Delayed eruption of teeth; Dental malocclusion; Dermal atrophy; Diastasis recti; Ectopia lentis; Erythema; Facial asymmetry; Finger syndactyly; Foot oligodactyly; Foot polydactyly; Hand oligodactyly; Hand polydactyly; Hearing impairment; Hiatus hernia; Horseshoe kidney; Hydrocephalus; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the iris; Hypoplastic nipples; Hypoplastic pelvis; Inguinal hernia; Intellectual disability; Intestinal malrotation; Iris coloboma; Joint laxity; Labial hypoplasia; Linear hyperpigmentation; Low-set ears; Lower limb asymmetry; Macule; Microcephaly; Microphthalmia; Midclavicular aplasia; Midclavicular hypoplasia; Mixed hearing impairment; Multicystic kidney dysplasia; Myelomeningocele; Nail dysplasia; Nail dystrophy; Narrow nasal bridge; Nystagmus; Oligodontia; Omphalocele; Open bite; Optic atrophy; Osteopathia striata; Papilloma; Patchy alopecia; Pointed chin; Postaxial hand polydactyly; Reduced number of teeth; Reduced visual acuity; Reticular hyperpigmentation; Rough bone trabeculation; Scoliosis; Short clavicles; Short finger; Short metacarpal; Short metatarsal; Short phalanx of finger; Short ribs; Short stature; Sparse hair; Spina bifida; Spina bifida occulta; Split foot; Split hand; Stenosis of the external auditory canal; Strabismus; Subcutaneous nodule; Supernumerary nipple; Telangiectasia; Telangiectasia of the skin; Thin skin; Toe syndactyly; Umbilical hernia; Upper limb asymmetry; Ureteral duplication; Visual impairment; X-linked dominant inheritanceEctodermal Dysplasia
PPP2R5D6p21.199.91%gene with protein product601646Autosomal dominant inheritance; Chronic diarrhea; Congenital hip dislocation; Congenital muscular torticollis; Deeply set eye; Downslanted palpebral fissures; Facial hypotonia; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypoglycemia; Intellectual disability; Macrocephaly; Myopia; Narrow forehead; Open mouth; Pyloric stenosis; Seizures; Strabismus; Ventriculomegaly
PYCR117q25.399.99%gene with protein product179035Agenesis of corpus callosum; Autosomal recessive inheritance; Beaking of vertebral bodies; Biconcave vertebral bodies; Blepharophimosis; Blue sclerae; Bowing of the long bones; Broad forehead; Congenital glaucoma; Congenital hip dislocation; Cryptorchidism; Cutis laxa; Deeply set eye; Delayed speech and language development; Dermal translucency; Downslanted palpebral fissures; Elbow flexion contracture; Excessive wrinkled skin; Failure to thrive; Fine hair; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Hip dislocation; Hydrocephalus; Hyperextensible skin; Hypertelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Malar flattening; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow nasal ridge; Osteopenia; Osteoporosis; Posteriorly rotated ears; Prominent forehead; Prominent superficial veins; Protruding ear; Recurrent fractures; Redundant skin; Scoliosis; Severe short stature; Sparse hair; Thin skin; Thin vermilion border; Triangular face; Vertebral compression fractures
RYR119q13.299.99%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
SIX114q23.1100%gene with protein product601205DFNA23Abnormality of the cerebrum; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Commissural lip pit; Conductive hearing impairment; Congenital hip dislocation; Dilatated internal auditory canal; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intestinal malrotation; Lacrimal duct stenosis; Long face; Microdontia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Sensorineural hearing impairment; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
TBX151p12100%gene with protein product604127TBX142-3 toe syndactyly; 4-5 toe syndactyly; Abnormal facial shape; Abnormality of the joint spaces of the elbow; Abnormality of the pinna; Abnormality of the skull base; Absent proximal finger flexion creases; Alveolar ridge overgrowth; Ambiguous genitalia, female; Ambiguous genitalia, male; Anterior rounding of vertebral bodies; Autosomal recessive inheritance; Bell-shaped thorax; Blepharophimosis; Brachydactyly; Camptodactyly; Cleft palate; Clinodactyly of the 5th finger; Congenital hip dislocation; Deeply set eye; Dislocated radial head; Elbow flexion contracture; Facial hirsutism; Fibular aplasia; Frontal bossing; Hearing impairment; Humeroradial synostosis; Hydranencephaly; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Joint contracture of the hand; Long clavicles; Low posterior hairline; Low-set ears; Macrocephaly; Mesomelia; Mesomelic leg shortening; Microcornea; Microglossia; Micrognathia; Microphthalmia; Microtia, first degree; Prominent protruding coccyx; Redundant neck skin; Rhizomelia; Short femur; Short neck; Short palpebral fissure; Short stature; Stenosis of the external auditory canal; Strabismus; Talipes equinovarus; Toe syndactyly; Wrist flexion contractureDisorders of Sex Development
THRA17q21.1100%gene with protein product190120THRA1, THRA2, ERBA1Abdominal distention; Anemia; Autosomal dominant inheritance; Coarse facial features; Congenital hip dislocation; Congenital hypothyroidism; Constipation; Delayed eruption of teeth; Delayed skeletal maturation; Drowsiness; Dry skin; Feeding difficulties; Growth delay; Hypertelorism; Hypothyroidism; Increased body weight; Increased T3/T4 ratio; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Omphalocele; Relative macrocephaly; Sleep disturbance; Thyroid hormone receptor defect; Umbilical hernia
WNT7A3p25.1100%gene with protein product601570Abnormal finger flexion creases; Abnormality of tibia morphology; Absent toenail; Amenorrhea; Anonychia; Aplasia of the ulna; Aplasia of the uterus; Aplasia/Hypoplasia involving the carpal bones; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia involving the pelvis; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the 5th finger; Aplasia/hypoplasia of the femur; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the pubic bone; Aplasia/Hypoplasia of the sacrum; Aplasia/Hypoplasia of the tarsal bones; Aplasia/Hypoplasia of the ulna; Aplastic pubic bones; Autosomal recessive inheritance; Carpal bone aplasia; Clinodactyly; Congenital hip dislocation; Congenital pseudoarthrosis of the clavicle; Decreased calvarial ossification; Disproportionate short stature; Ectrodactyly; Elbow ankylosis; Elbow flexion contracture; Epicanthus; Femoral bowing; Fibular aplasia; Foot oligodactyly; Hand oligodactyly; Hemivertebrae; High palate; Humeroradial synostosis; Hypoplasia of the radius; Hypoplastic iliac wing; Hypoplastic nipples; Hypoplastic pelvis; Hypospadias; Intrauterine growth retardation; Long ear; Low-set ears; Micrognathia; Micromelia; Nail dysplasia; Narrow palate; Patellar aplasia; Pectus carinatum; Phocomelia; Pilonidal sinus; Postaxial hand polydactyly; Radial bowing; Short foot; Short neck; Short stature; Split hand; Talipes equinovarus; Toe syndactyly; Ulnar deviation of finger; Wide nasal bridgeDisorders of Sex Development
ZNF46916q24.2100%gene with protein product612078Abnormality of hair pigmentation; Atypical scarring of skin; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Conductive hearing impairment; Congenital hip dislocation; Corneal dystrophy; Corneal scarring; Decreased corneal thickness; Dentinogenesis imperfecta; Disproportionate tall stature; Epicanthus; Gait disturbance; Hearing impairment; High myopia; Hyperextensible skin; Joint hyperflexibility; Joint laxity; Keratoconus; Keratoglobus; Macrocephaly; Mitral valve prolapse; Molluscoid pseudotumors; Myalgia; Myopia; Osteoporosis; Palmoplantar cutis laxa; Red hair; Scoliosis; Sensorineural hearing impairment; Soft skin; Spondylolisthesis; Visual loss


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