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Phenotypes
Talipes

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AMMECR1Xq2399.99%gene with protein product300195Abnormality of the hair; Anteverted nares; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Elliptocytosis; Flat face; Glomerulopathy; Hearing impairment; Hypercalciuria; Intellectual disability; Intellectual disability, severe; Malar flattening; Micrognathia; Microscopic hematuria; Muscular hypotonia; Proteinuria; Renal insufficiency; Sensorineural hearing impairment; Talipes; Tapered finger; Thick vermilion border; Thin vermilion border; X-linked recessive inheritance
ARHGAP313q13.32-q13.100%gene with protein product610911Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Alopecia; Aortic valve stenosis; Aplasia cutis congenita; Aplasia cutis congenita on trunk or limbs; Aplasia cutis congenita over posterior parietal area; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Brachydactyly; Calvarial skull defect; Cataract; Cleft palate; Cleft upper lip; Cortical dysplasia; Cutis marmorata; Encephalocele; Esotropia; Failure to thrive; Finger syndactyly; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypoplasia of the corpus callosum; Hypoplastic left heart; Imperforate hymen; Intellectual disability; Microcephaly; Microphthalmia; Pachygyria; Periventricular leukomalacia; Phenotypic variability; Polymicrogyria; Pulmonary arterial hypertension; Pulmonary artery atresia; Pulmonary artery stenosis; Pulmonic stenosis; Seizures; Short distal phalanx of finger; Small nail; Sparse hair; Split hand; Strabismus; Supernumerary nipple; Talipes; Talipes equinovarus; Tetralogy of Fallot; Toe syndactyly; Ventricular septal defect; Ventriculomegaly
ATR3q2399.98%gene with protein product60121511 pairs of ribs; Abnormal finger flexion creases; Abnormality of dental enamel; Abnormality of the pinna; Abnormally large globe; Absent earlobe; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Cachexia; Carious teeth; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Dislocated radial head; Downslanted palpebral fissures; Elbow flexion contracture; Facial asymmetry; Glaucoma; High palate; Hip dislocation; Hip dysplasia; Hyperactivity; Hypoplasia of dental enamel; Hypoplasia of proximal fibula; Hypoplasia of proximal radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses; Joint hyperflexibility; Large basal ganglia; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Pancytopenia; Pes planus; Postnatal growth retardation; Prematurely aged appearance; Prominent nose; Proportionate short stature; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Selective tooth agenesis; Short stature; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse scalp hair; Strabismus; Talipes; TelangiectasiaAplastic Anemia ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Obesity
B9D117p11.2100%gene with protein product614144Abnormal chorioretinal morphology; Abnormality of the posterior cranial fossa; Ambiguous genitalia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Limb undergrowth; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes; Talipes equinovarusHeterotaxy
B9D219q13.2100%gene with protein product611951Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Autosomal recessive inheritance; Cataract; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hypertelorism; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Occipital encephalocele; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Renal cyst; Sacral dimple; Sclerocornea; Sloping forehead; TalipesHeterotaxy
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CD963q13.13-q13.99.8%gene with protein product606037Abnormality of cardiovascular system morphology; Abnormality of immune system physiology; Abnormality of the anus; Accessory oral frenulum; Anteverted nares; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Biparietal narrowing; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Cutis laxa; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Epicanthus; Failure to thrive; Failure to thrive in infancy; Female pseudohermaphroditism; Fused sternal ossification centers; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hepatomegaly; High palate; Hip dislocation; Hypoplasia of the ear cartilage; Intellectual disability; Limitation of joint mobility; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micromelia; Midline facial capillary hemangioma; Muscular hypotonia; Omphalocele; Patent ductus arteriosus; Pectus excavatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Radial deviation of finger; Redundant skin; Renal cortical cysts; Sacral dimple; Scoliosis; Seizures; Short metacarpal; Short neck; Short nose; Short stature; Smooth philtrum; Strabismus; Talipes; Thick anterior alveolar ridges; Thin vermilion border; Toe syndactyly; Trigonocephaly; Ulnar deviation of finger; Upslanted palpebral fissure; Ventricular septal defect; Wide mouth; Wide nasal bridge
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CRIPT2p2199.92%gene with protein product604594Anemia; Anisopoikilocytosis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Depressed nasal bridge; Frontal bossing; High forehead; Profound global developmental delay; Proptosis; Recurrent infections; Short digit; Short distal phalanx of finger; Sparse and thin eyebrow; Spotty hypopigmentation; Talipes; Talipes equinovarus; Telecanthus
CSPP18q13.1-q13.299.9%gene with protein product611654Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Dyspnea; Elongated superior cerebellar peduncle; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posterior fossa cyst; Ptosis; Sclerocornea; Sloping forehead; Strabismus; Talipes; Variable expressivityHeterotaxy ; Short-Rib Thoracic Dysplasia
DLL415q15.1100%gene with protein product605185Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Aplasia cutis congenita of scalp; Aplasia cutis congenita over the scalp vertex; Autosomal dominant inheritance; Brachydactyly; Calvarial skull defect; Cataract; Congenital localized absence of skin; Cutis marmorata; Failure to thrive; Finger syndactyly; Foot oligodactyly; Hydrocephalus; Microphthalmia; Pulmonary artery atresia; Short distal phalanx of finger; Skin ulcer; Sparse hair; Spinal dysraphism; Split hand; Strabismus; Syndactyly; Talipes; Tetralogy of Fallot; Tricuspid regurgitation; Truncus arteriosus; Ventricular septal defect
DOCK619p13.2100%gene with protein product614194Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Autosomal recessive inheritance; Brachydactyly; Bulbous nose; Calvarial skull defect; Cataract; Cutis marmorata; Depressed nasal bridge; Failure to thrive; Finger syndactyly; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Low anterior hairline; Low-set ears; Microcephaly; Micrognathia; Microphthalmia; Narrow palpebral fissure; Oligohydramnios; Pulmonary artery atresia; Seizures; Short distal phalanx of finger; Single transverse palmar crease; Small nail; Sparse hair; Split hand; Strabismus; Talipes; Tetralogy of Fallot
EOGT3p14.1100%gene with protein product614789C3orf64Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Autosomal recessive inheritance; Brachydactyly; Calvarial skull defect; Cataract; Cutis marmorata; Failure to thrive; Finger syndactyly; Hydrocephalus; Hypoplastic toenails; Microphthalmia; Phenotypic variability; Pulmonary artery atresia; Short distal phalanx of finger; Sparse hair; Split hand; Strabismus; Talipes; Tetralogy of Fallot; Toenail dysplasia
FKBP1017q21.2100%gene with protein product607063Abnormality of the skin; Ankle contracture; Aplasia/Hypoplasia of the patella; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Biconcave vertebral bodies; Blue sclerae; Brachycephaly; Coxa vara; Dentinogenesis imperfecta; Elbow flexion contracture; Elevated alkaline phosphatase; Gait disturbance; Hip contracture; Increased susceptibility to fractures; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Osteopenia; Osteoporosis; Pectus carinatum; Platyspondyly; Protrusio acetabuli; Pterygium; Recurrent fractures; Respiratory insufficiency; Scoliosis; Short stature; Talipes; Talipes equinovarus; Triangular face; Vertebral compression fractures; Vertebral wedging; Wormian bones
LIFR5p13.199.51%gene with protein product151443Abnormal metaphyseal trabeculation; Abnormality of dental enamel; Abnormality of vision; Absent patellar reflexes; Adducted thumb; Apnea; Asthma; Autosomal recessive inheritance; Blotching pigmentation of the skin; Broad ischia; Camptodactyly of finger; Contracture of the proximal interphalangeal joint of the 5th finger; Dysautonomia; Dysphagia; Elbow flexion contracture; Enlarged joints; Episodic fever; Feeding difficulties; Feeding difficulties in infancy; Femoral bowing; Flared metaphysis; Flexion contracture of toe; Frontal bossing; Generalized hypotonia; Genu valgum; Hoarse voice; Hyperhidrosis; Hypohidrosis; Hypoplastic iliac body; Impaired pain sensation; Intrauterine growth retardation; Knee flexion contracture; Lacrimation abnormality; Low-set ears; Malar flattening; Metaphyseal rarefaction; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Myotonia; Nasal speech; Oligohydramnios; Opacification of the corneal stroma; Osteopenia; Osteoporosis; Paresthesia; Pathologic fracture; Pulmonary arterial hypertension; Pulmonary arterial medial hypertrophy; Pulmonary hypoplasia; Pursed lips; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Short neck; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short tibia; Single transverse palmar crease; Skeletal dysplasia; Smooth tongue; Square face; Talipes; Talipes equinovarus; Talipes valgus; Thickened cortex of long bones; Thin ribs; Thin skin; Tibial bowing; Trismus; Ulnar deviation of finger; Wide nasal base
LMBR17q36.398.68%gene with protein product605522C7orf21-5 finger complete cutaneous syndactyly; 1-5 finger syndactyly; 2-3 toe syndactyly; 6 metacarpals; Abnormal heart morphology; Abnormality of epiphysis morphology; Abnormality of the face; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the wrist; Absent forearm; Absent hand; Absent metatarsal bone; Absent radius; Absent tibia; Absent toe; Aplasia of metacarpal bones; Aplasia of the phalanges of the hand; Aplasia of the tarsal bones; Aplasia of the ulna; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the long bones; Broad foot; Camptodactyly of finger; Carpal bone aplasia; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Depressed nasal ridge; Duplication of phalanx of hallux; Duplication of thumb phalanx; Fibular aplasia; Fibular duplication; Finger syndactyly; Foot polydactyly; Hand polydactyly; Increased fibular diameter; Limb duplication; Limitation of joint mobility; Lower limb peromelia; Mirror image polydactyly; Opposable triphalangeal thumb; Patellar aplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial hand polydactyly; Prominent nose; Short columella; Short foot; Short humerus; Short tibia; Supernumerary metacarpal bones; Syndactyly; Talipes; Tarsal synostosis; Toe syndactyly; Triphalangeal thumb; Underdeveloped nasal alae; Upper limb phocomelia
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
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MYBPC112q23.2100%gene with protein product160794Adducted thumb; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Camptodactyly; Camptodactyly of finger; Contractures involving the joints of the feet; Distal arthrogryposis; Joint stiffness; Overlapping fingers; Phenotypic variability; Skeletal muscle atrophy; Talipes; Ulnar deviation of finger
MYH317p13.1100%gene with protein product160720Abnormal auditory evoked potentials; Abnormality of the dentition; Abnormality of the ear; Abnormality of the hip bone; Abnormality of the skin; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Blepharophimosis; Breech presentation; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Cerebellar atrophy; Chin with H-shaped crease; Cryptorchidism; Deeply set eye; Depressed nasal ridge; Dimple chin; Distal arthrogryposis; Downslanted palpebral fissures; Elbow flexion contracture; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fever; Flat face; Flexion contracture of toe; Hearing impairment; Hemivertebrae; High palate; Hip contracture; Hip dislocation; Hypertelorism; Hypoplasia of the brainstem; Inguinal hernia; Joint contracture of the hand; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Long philtrum; Low-set, posteriorly rotated ears; Malar flattening; Malignant hyperthermia; Mandibular prognathia; Mask-like facies; Metatarsus adductus; Microcephaly; Micrognathia; Multiple pterygia; Muscle weakness; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Overlapping fingers; Postnatal growth retardation; Prenatal movement abnormality; Prominent forehead; Prominent nasolabial fold; Protruding ear; Ptosis; Rocker bottom foot; Round ear; Scoliosis; Seizures; Short neck; Short nose; Short stature; Shoulder flexion contracture; Small for gestational age; Spina bifida occulta; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Telecanthus; Triangular face; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Whistling appearance; Wide nasal bridge
NALCN13q32.3-q33.100%gene with protein product611549VGCNL1Abnormal pyramidal signs; Abnormality of the dentition; Abnormality of the hip bone; Adducted thumb; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Brachycephaly; Camptodactyly; Camptodactyly of finger; Congenital contracture; Congenital onset; Constipation; Cryptorchidism; Decreased motor nerve conduction velocity; Deeply set eye; Delayed speech and language development; Depressed nasal ridge; Dimple chin; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged naris; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Hip contracture; Hyperreflexia; Hypertelorism; Inguinal hernia; Joint stiffness; Knee flexion contracture; Long philtrum; Low-set ears; Macrotia; Malignant hyperthermia; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Nystagmus; Optic atrophy; Overlapping fingers; Pectus carinatum; Poor eye contact; Postnatal growth retardation; Prenatal movement abnormality; Progressive; Prominent forehead; Protruding ear; Ptosis; Pursed lips; Respiratory insufficiency; Round ear; Scoliosis; Seizures; Short columella; Short neck; Short nose; Short stature; Skeletal muscle atrophy; Slender nose; Smooth philtrum; Spastic tetraplegia; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Thin upper lip vermilion; Triangular face; Ulnar deviation of finger; Ulnar deviation of the wrist; Umbilical hernia; Underdeveloped nasal alae; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge
NOTCH19q34.399.98%gene with protein product190198TAN1Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aortic arch aneurysm; Aortic regurgitation; Aortic valve calcification; Aortic valve stenosis; Aplasia cutis congenita; Autosomal dominant inheritance; Bicuspid aortic valve; Brachydactyly; Calvarial skull defect; Cataract; Cavernous hemangioma; Coarctation of aorta; Cutis marmorata; Cutis marmorata telangiectatica congenita; Dystrophic toenail; Failure to thrive; Finger syndactyly; Heart murmur; Hydrocephalus; Hypertension; Microphthalmia; Phenotypic variability; Pulmonary arterial hypertension; Pulmonary artery atresia; Pulmonic stenosis; Right ventricular hypertrophy; Short distal phalanx of finger; Sparse hair; Split hand; Strabismus; Syndactyly; Talipes; Tetralogy of Fallot; Thoracic aorta calcification
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
RBPJ4p15.2100%gene with protein product147183IGKJRB1, RBPSUH2-3 toe syndactyly; Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Autosomal dominant inheritance; Brachydactyly; Calvarial skull defect; Cataract; Cutis marmorata; Failure to thrive; Finger syndactyly; Hydrocephalus; Microcephaly; Microphthalmia; Pulmonary artery atresia; Short distal phalanx of finger; Short metatarsal; Sparse hair; Split hand; Strabismus; Talipes; Tetralogy of Fallot
RIPK421q22.3100%gene with protein product605706ANKRD3Absent eyebrow; Absent eyelashes; Absent thumb; Alopecia totalis; Ambiguous genitalia; Anal stenosis; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia of the distal phalanges of the toes; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Cleft palate; Cleft upper lip; Corneal opacity; Eyelid coloboma; Facial cleft; Finger syndactyly; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic toenails; Intellectual disability; Intrauterine growth retardation; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Narrow mouth; Popliteal pterygium; Short nose; Short phalanx of finger; Small nail; Sparse or absent eyelashes; Syndactyly; Synostosis of joints; Talipes; Toe syndactyly; Underdeveloped nasal alaeDisorders of Sex Development
RPGRIP114q11.299.98%gene with protein product605446RPGRIPAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Cleft palate; Cone/cone-rod dystrophy; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hemiplegia/hemiparesis; High hypermetropia; Hypertelorism; Keratoconus; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Macular degeneration; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Oligohydramnios; Optic atrophy; Pendular nystagmus; Photophobia; Postaxial foot polydactyly; Postaxial hand polydactyly; Reduced visual acuity; Sclerocornea; Seizures; Severe visual impairment; Sloping forehead; Talipes; Undetectable electroretinogram; Undetectable light- and dark-adapted electroretinogram; Visual impairmentHeterotaxy
RPGRIP1L16q12.296.43%gene with protein product610937Abnormal chorioretinal morphology; Abnormality of the corpus callosum; Abnormality of the urinary system; Anencephaly; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Cleft upper lip; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Renal insufficiency; Retinal dystrophy; Round face; Sclerocornea; Scoliosis; Sloping forehead; Spasticity; Splenomegaly; Talipes; Visual impairment; Wide mouthHeterotaxy
SC5D11q23.3-q24.99.94%gene with protein product602286SC5DLAbnormal platelet morphology; Abnormality of the thoracic spine; Anisopoikilocytosis; Anteverted nares; Arnold-Chiari malformation; Autosomal recessive inheritance; Biparietal narrowing; Bulbous nose; Cataract; Cerebellar cortical atrophy; Cerebral calcification; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Failure to thrive; Full cheeks; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horseshoe kidney; Hypoplasia of penis; Increased mean platelet volume; Intrahepatic cholestasis; Intrauterine growth retardation; Long philtrum; Lumbosacral meningocele; Meningocele; Microcephaly; Microcornea; Micrognathia; Muscular hypotonia; Myoclonus; Narrow forehead; Opacification of the corneal stroma; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent metopic ridge; Ptosis; Seizures; Short nose; Sloping forehead; Specific learning disability; Talipes; Thrombocytopenia; Toe syndactyly
STAC312q13.3100%gene with protein product615521Autosomal recessive inheritance; Blepharophimosis; Cleft palate; Cryptorchidism; Downslanted palpebral fissures; Downturned corners of mouth; Feeding difficulties; Flexion contracture; High palate; Hyporeflexia; Kyphoscoliosis; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple skeletal anomalies; Muscle weakness; Myopathic facies; Ptosis; Restrictive deficit on pulmonary function testing; Short palpebral fissure; Short stature; Skeletal muscle atrophy; Talipes; Telecanthus
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TMEM10717p13.1100%gene with protein product616183Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Cataract; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hypertelorism; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes
TMEM21611q13.1100%gene with protein product613277CORS2, MKS2Abnormal chorioretinal morphology; Abnormal renal physiology; Abnormality of saccadic eye movements; Abnormality of the corpus callosum; Abnormality of the foot; Agenesis of cerebellar vermis; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Dysgenesis of the cerebellar vermis; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Esotropia; Failure to thrive; Frontal bossing; Full cheeks; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydrocephalus; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic male external genitalia; Impaired smooth pursuit; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Meningocele; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal cyst; Retinal dystrophy; Sclerocornea; Sloping forehead; Tachypnea; Talipes; Thickened superior cerebellar peduncle; Visual impairmentHeterotaxy
TMEM23116q23.199.51%gene with protein product614949Abnormal chorioretinal morphology; Absent speech; Aggressive behavior; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Global developmental delay; Hypertelorism; Intellectual disability; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Respiratory insufficiency; Retinal dystrophy; Sclerocornea; Self-mutilation; Sloping forehead; Tachypnea; TalipesHeterotaxy
TMEM678q22.199.95%gene with protein product609884MKS3Abnormal chorioretinal morphology; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Breathing dysregulation; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Polydactyly; Polydipsia; Polyuria; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal corticomedullary cysts; Renal insufficiency; Retinal degeneration; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Stage 5 chronic kidney disease; Talipes; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Visual impairment; Wide mouthBardet-Biedl Syndrome ; Heterotaxy
TNNI211p15.5100%gene with protein product191043AMCD2BAbnormality of the ear; Abnormality of the hip bone; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Calcaneovalgus deformity; Camptodactyly of finger; Distal arthrogryposis; Downslanted palpebral fissures; High palate; Joint stiffness; Long philtrum; Mandibular prognathia; Metatarsus adductus; Micrognathia; Narrow face; Narrow mouth; Overlapping fingers; Prominent nasolabial fold; Protruding ear; Rocker bottom foot; Round ear; Scoliosis; Short neck; Short stature; Talipes; Talipes equinovarus; Tarsal synostosis; Triangular face; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Vertebral segmentation defect; Webbed neck; Wide nasal bridge
TNNT311p15.599.99%gene with protein product600692Abnormality of the ear; Abnormality of the hip bone; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Calcaneovalgus deformity; Camptodactyly of finger; Distal arthrogryposis; Downslanted palpebral fissures; High palate; Joint stiffness; Long philtrum; Mandibular prognathia; Metatarsus adductus; Micrognathia; Narrow face; Narrow mouth; Overlapping fingers; Prominent nasolabial fold; Protruding ear; Rocker bottom foot; Round ear; Scoliosis; Short neck; Short stature; Talipes; Talipes equinovarus; Tarsal synostosis; Triangular face; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Vertebral segmentation defect; Webbed neck; Wide nasal bridge
TPM29p13.3100%gene with protein product190990AMCD1Abnormality of the ear; Abnormality of the hip bone; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bulbar palsy; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Decreased fetal movement; Difficulty walking; Dilated cardiomyopathy; Distal arthrogryposis; Downslanted palpebral fissures; Dysphagia; Elbow flexion contracture; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; Gowers sign; Heterogeneous; High palate; Hyporeflexia; Joint stiffness; Kyphoscoliosis; Limb muscle weakness; Long face; Long philtrum; Lumbar hyperlordosis; Mandibular prognathia; Metatarsus adductus; Micrognathia; Motor delay; Muscular hypotonia; Myopathic facies; Myopathy; Narrow face; Narrow mouth; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Overlapping fingers; Pectus excavatum; Prominent nasolabial fold; Protruding ear; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Round ear; Scapular winging; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Talipes; Talipes equinovarus; Tarsal synostosis; Triangular face; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Variable expressivity; Vertebral segmentation defect; Waddling gait; Weak cry; Webbed neck; Wide nasal bridgeRhabdomyolysis
WDPCP2p1599.99%gene with protein product613580C2orf862-3 finger syndactyly; Abnormal chorioretinal morphology; Abnormal electroretinogram; Aplasia/Hypoplasia of the iris; Autosomal recessive inheritance; Benign neoplasm of the central nervous system; Broad hallux; Cataract; Cleft palate; Coarctation of aorta; Complete atrioventricular canal defect; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hamartoma of tongue; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Nystagmus; Obesity; Oligohydramnios; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short stature; Sloping forehead; Subvalvular aortic stenosis; TalipesBardet-Biedl Syndrome ; Heterotaxy ; Obesity


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