XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Ankle contracture

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
C19ORF1219q1294.81%gene with protein product614297SPG43Abnormal lower motor neuron morphology; Ankle contracture; Ataxia; Autosomal recessive inheritance; Babinski sign; Delayed speech and language development; Dementia; Depressivity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Elevated serum creatine phosphokinase; Emotional lability; Gait disturbance; Hyperreflexia; Hyporeflexia; Impulsivity; Knee flexion contracture; Lewy bodies; Neurodegeneration; Optic atrophy; Oromandibular dystonia; Parkinsonism; Pes cavus; Phenotypic variability; Progressive; Progressive visual loss; Scapular winging; Slow progression; Spastic paraplegia; Spasticity; Tremor; Variable expressivity
COL6A121q22.3100%gene with protein product120220Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A221q22.3100%gene with protein product120240Abnormality of the cardiovascular system; Abnormality of the palate; Achilles tendon contracture; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Decreased pulmonary function; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased connective tissue; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Lumbar hyperlordosis; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Round face; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Thoracolumbar scoliosis; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A32q37.3100%gene with protein product120250Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Laryngeal dystonia; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Oromandibular dystonia; Pes valgus; Postural tremor; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
ESCO28p21.1100%gene with protein product609353RBSAbnormality of cardiovascular system morphology; Abnormality of the metacarpal bones; Absent earlobe; Absent radius; Accessory spleen; Ankle contracture; Aortic valve stenosis; Aplasia of the ulna; Aplasia/Hypoplasia of the thumb; Atrial septal defect; Autosomal recessive inheritance; Bicornuate uterus; Biliary tract abnormality; Blue sclerae; Bowing of the long bones; Brachycephaly; Brachydactyly; Cafe-au-lait spot; Cataract; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Complete duplication of thumb phalanx; Cranial nerve paralysis; Craniosynostosis; Cryptorchidism; Cystic hygroma; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged labia minora; External ear malformation; Eyelid coloboma; Fair hair; Frontal encephalocele; Global developmental delay; Hand oligodactyly; High palate; Hip contracture; Horseshoe kidney; Hydrocephalus; Hypertelorism; Hypoplasia of the radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Knee flexion contracture; Long penis; Low-set ears; Malar flattening; Mesomelic arm shortening; Microcephaly; Micrognathia; Microphthalmia; Midface capillary hemangioma; Narrow naris; Opacification of the corneal stroma; Patent ductus arteriosus; Phocomelia; Polycystic kidney dysplasia; Polyhydramnios; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Premature separation of centromeric heterochromatin; Proptosis; Proximal placement of thumb; Radial deviation of finger; Radioulnar synostosis; Seizures; Severe intrauterine growth retardation; Shallow orbits; Short neck; Short stature; Short thumb; Sparse hair; Syndactyly; Talipes equinovalgus; Tetraphocomelia; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Ventricular septal defect; Wide nasal bridge; Wormian bones; Wrist flexion contracture
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
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
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
LGI419q13.1299.99%gene with protein product608303Ankle contracture; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Camptodactyly; Congenital onset; Dental crowding; Distal arthrogryposis; Elbow flexion contracture; EMG abnormality; Esotropia; Fetal akinesia sequence; Generalized hypotonia; High palate; Hip contracture; Internally rotated shoulders; Knee flexion contracture; Limitation of joint mobility; Micrognathia; Muscular hypotonia; Narrow forehead; Poor head control; Protruding ear; Ptosis; Reduced tendon reflexes; Respiratory distress; Retrognathia; Scapular winging; Talipes equinovarus
MMP216q12.2100%gene with protein product120360CLG4, CLG4AAbnormality of the ear; Abnormality of the thorax; Ankle contracture; Ankylosis of feet small joints; Antinuclear antibody positivity; Arthralgia; Autosomal recessive inheritance; Brachycephaly; Broad metatarsal; Bulbous nose; C1-C2 subluxation; Camptodactyly of toe; Carpal osteolysis; Coarse facial features; Delayed closure of the anterior fontanelle; Delayed eruption of teeth; Distal tapering of metatarsals; Frontal bossing; Gait disturbance; Gingival overgrowth; Hip contracture; Hirsutism; Hypermelanotic macule; Hypertelorism; Hypoplasia of the maxilla; Infantile onset; Interphalangeal joint contracture of finger; Interphalangeal joint erosions; Juvenile onset; Kyphoscoliosis; Metacarpal osteolysis; Metaphyseal widening; Metatarsal osteolysis; Micrognathia; Narrow nasal bridge; Osteolysis involving tarsal bones; Osteopenia; Osteoporosis; Peripheral opacification of the cornea; Pes cavus; Pes planus; Proptosis; Protrusio acetabuli; Sclerotic cranial sutures; Short stature; Split hand; Subcutaneous nodule; Thickened skin; Thin metacarpal cortices; Thin metatarsal cortices; Vertebral compression fractures; Widened metacarpal shaft; Wrist flexion contractureHeterotaxy
NT5C210q24.32-q2499.99%gene with protein product600417NT5BAnkle contracture; Autosomal recessive inheritance; Babinski sign; Dysplastic corpus callosum; Flexion contracture; Flexion contracture of toe; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Knee flexion contracture; Motor delay; Myopia; Nystagmus; Optic atrophy; Pendular nystagmus; Spastic gait; Spastic paraplegia
RPL10Xq28100%gene with protein product312173Abnormal facial shape; Ankle contracture; Branchial cyst; Camptodactyly; Cryptorchidism; Dental crowding; Finger syndactyly; Gastroesophageal reflux; Hypospadias; Knee flexion contracture; Laryngomalacia; Mandibular prognathia; Microcephaly; Muscular hypotonia; Protruding ear; Pulmonary artery stenosis; Recurrent infections; Sacral lipoma; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Single transverse palmar crease; Tapered finger; Thin upper lip vermilion
TOR1AIP11q25.2100%gene with protein product614512Ankle contracture; Autosomal recessive inheritance; Increased endomysial connective tissue; Slow progression; Spinal rigidity


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