XomeDxSlice Tool

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Phenotypes
Joint dislocation

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ANKRD555q11.2100%gene with protein product615189Antinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
CD2471q24.2100%gene with protein product186780CD3ZAntinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Decrease in T cell count; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Eosinophilia; Immunodeficiency; Infantile onset; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Protracted diarrhea; Susceptibility to herpesvirusPrimary Immunodeficiency
CHRNA12q31.1100%gene with protein product100690CHRNAAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Cystic hygroma; Decreased miniature endplate potentials; Decreased size of nerve terminals; Depressed nasal ridge; Dysarthria; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Fatigable weakness; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized muscle weakness; Gowers sign; High palate; Hypertelorism; Hypoplastic heart; Increased susceptibility to fractures; Infantile onset; Intermittent episodes of respiratory insufficiency due to muscle weakness; Intrauterine growth retardation; Joint dislocation; Low-set ears; Macrotia; Malignant hyperthermia; Micrognathia; Motor delay; Multiple pterygia; Neck muscle weakness; Neonatal hypotonia; Onset; Ophthalmoparesis; Ophthalmoplegia; Polyhydramnios; Poor suck; Prolonged miniature endplate currents; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency due to muscle weakness; Scoliosis; Short finger; Thin ribs; Type 2 muscle fiber atrophy; Variable expressivity; Vertebral fusion; Weak cry
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRNG2q37.1100%gene with protein product100730ACHRGAbnormal cervical curvature; Abnormal facial shape; Abnormality of the foot; Abnormality of the neck; Absence of labia majora; Akinesia; Amyoplasia; Antecubital pterygium; Anterior clefting of vertebral bodies; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the skin; Arachnodactyly; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Axillary pterygia; Bilateral camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cleft palate; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal ridge; Diaphragmatic eventration; Dislocated radial head; Downslanted palpebral fissures; Downturned corners of mouth; Dysplastic patella; Edema; Epicanthus; Exostosis of the external auditory canal; Facial asymmetry; Fetal akinesia sequence; Finger syndactyly; Flexion contracture; Fused cervical vertebrae; High palate; Hip dislocation; Hypertelorism; Hypogonadism; Hypoplastic heart; Hypoplastic nipples; Hypospadias; Increased susceptibility to fractures; Inguinal hernia; Intercrural pterygium; Intrauterine growth retardation; Joint dislocation; Kyphosis; Limitation of joint mobility; Long clavicles; Long face; Long philtrum; Low-set ears; Malignant hyperthermia; Microcephaly; Micrognathia; Multiple pterygia; Narrow mouth; Neck pterygia; Neonatal respiratory distress; Patellar aplasia; Pectus excavatum; Pointed chin; Polyhydramnios; Popliteal pterygium; Ptosis; Pulmonary hypoplasia; Rib fusion; Rocker bottom foot; Scoliosis; Short finger; Short stature; Symphalangism affecting the phalanges of the hand; Syndactyly; Talipes calcaneovalgus; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Vertebral fusion; Vertebral segmentation defect; Webbed neck
CHST1415q15.1100%gene with protein product608429D4ST1Abnormal anterior chamber morphology; Abnormality of the duodenum; Adducted thumb; Arachnodactyly; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blue sclerae; Brachycephaly; Broad forehead; Bruising susceptibility; Cleft palate; Constipation; Cryptorchidism; Delayed cranial suture closure; Diastasis recti; Distal arthrogryposis; Downslanted palpebral fissures; Facial asymmetry; Flat forehead; Fragile skin; Generalized hypotonia; Generalized joint laxity; Glaucoma; Global developmental delay; Hearing impairment; Hiatus hernia; High palate; Hydronephrosis; Hyperextensible skin; Hypertelorism; Intestinal malrotation; Joint dislocation; Joint laxity; Large fontanelles; Long philtrum; Microcornea; Microretrognathia; Motor delay; Myopia; Narrow mouth; Nephrotic syndrome; Pectus excavatum; Pneumothorax; Posteriorly rotated ears; Protruding ear; Recurrent skin infections; Retinal detachment; Scarring; Scoliosis; Strabismus; Talipes equinovarus; Telecanthus; Thin upper lip vermilion; Umbilical hernia; Ventriculomegaly
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL3A12q32.2100%gene with protein product120180EDS4AAbnormal circle of Willis morphology; Abnormal oral frenulum morphology; Abnormality of brainstem morphology; Abnormality of the eyelashes; Abnormality of the urinary system; Absent earlobe; Alopecia of scalp; Aortic dissection; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Bladder diverticulum; Bruising susceptibility; Carious teeth; Cerebral berry aneurysm; Cigarette-paper scars; Cognitive impairment; Convex nasal ridge; Cryptorchidism; Dermal translucency; Dilatation of the cerebral artery; Epicanthus; Excessive wrinkled skin; Fine hair; Flat face; Foot acroosteolysis; Fragile skin; Gastrointestinal infarctions; Glaucoma; Global developmental delay; Hemiparesis; Hemoptysis; Hyperextensible skin; Hypermobility of distal interphalangeal joints; Hypertelorism; Hypertension; Hypokalemia; Inguinal hernia; Intellectual disability; Internal hemorrhage; Irregular hyperpigmentation; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Keratoconus; Lipoatrophy; Macule; Melanocytic nevus; Micrognathia; Mitral valve prolapse; Molluscoid pseudotumors; Osteoarthritis; Osteolytic defects of the phalanges of the hand; Pectus excavatum; Periodontitis; Peripheral arteriovenous fistula; Pneumothorax; Premature birth; Premature delivery because of cervical insufficiency or membrane fragility; Premature loss of teeth; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Seizures; Short foot; Short stature; Small hand; Soft skin; Spontaneous pneumothorax; Sprengel anomaly; Striae distensae; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Transient ischemic attack; Uterine prolapse; Varicose veins; Visual field defect
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A22q32.299.87%gene with protein product120190Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Cigarette-paper scars; Congenital diaphragmatic hernia; Ectopia lentis; Epicanthus; Femoral hernia; Fragile skin; Gastroesophageal reflux; Genu recurvatum; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Pes planus; Poor wound healing; Premature birth following premature rupture of fetal membranes; Scoliosis; Short stature; Soft skin; Subcutaneous spheroids; Thin skin; Umbilical hernia; Varicose veins
COL5A22q32.299.87%gene with protein product120190Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Cigarette-paper scars; Congenital diaphragmatic hernia; Ectopia lentis; Epicanthus; Femoral hernia; Fragile skin; Gastroesophageal reflux; Genu recurvatum; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Pes planus; Poor wound healing; Premature birth following premature rupture of fetal membranes; Scoliosis; Short stature; Soft skin; Subcutaneous spheroids; Thin skin; Umbilical hernia; Varicose veins
COMP19p13.11100%gene with protein product600310PSACH, EDM1, EPD1Abnormality of epiphysis morphology; Abnormality of the hip bone; Abnormality of the metaphysis; Arthralgia; Atlantoaxial dislocation; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Beaking of vertebral bodies; Brachydactyly; Broad femoral neck; Carpal bone hypoplasia; Cervical cord compression; Childhood onset short-limb short stature; Delayed epiphyseal ossification; Delayed skeletal maturation; Disproportionate short-limb short stature; Epiphyseal dysplasia; Flared femoral metaphysis; Fragmented epiphyses; Fragmented, irregular epiphyses; Gait disturbance; Generalized joint laxity; Genu recurvatum; Genu valgum; Genu varum; Hamartomatous polyposis; Heterogeneous; Hip dysplasia; Hip osteoarthritis; Hyperlordosis; Hypoplasia of the odontoid process; Intestinal polyposis; Irregular carpal bones; Irregular epiphyses; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limitation of joint mobility; Limited elbow extension; Limited hip extension; Limited hip movement; Lumbar hyperlordosis; Micromelia; Mild short stature; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Radial metaphyseal irregularity; Scoliosis; Sensory neuropathy; Severe short stature; Short distal phalanx of finger; Short femoral neck; Short foot; Short long bone; Short metacarpal; Short palm; Short phalanx of finger; Small epiphyses; Small epiphyses of the phalanges of the hand; Spatulate ribs; Ulnar deviation of the hand; Ulnar deviation of the wrist; Ulnar metaphyseal irregularity; Waddling gait
EBPXp11.23100%gene with protein product300205CDPX22-3 toe syndactyly; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the pinna; Abnormality of the thorax; Alopecia; Aortic valve stenosis; Bilateral talipes equinovarus; Cataract; Concave nasal ridge; Congenital ichthyosiform erythroderma; Congenital onset; Cryptorchidism; Dandy-Walker malformation; Downslanted palpebral fissures; Edema; Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Erythema; Erythroderma; Failure to thrive; Flat face; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hemiatrophy; Hemivertebrae; High palate; Hydrocephalus; Hydronephrosis; Hyperactivity; Ichthyosis; Intellectual disability; Intellectual disability, moderate; Joint dislocation; Kyphosis; Long fingers; Low-set ears; Malar flattening; Microphthalmia; Microretrognathia; Midface retrusion; Nystagmus; Optic atrophy; Overlapping fingers; Overlapping toe; Patellar dislocation; Phenotypic variability; Polydactyly; Polyhydramnios; Postnatal growth retardation; Prominent nasal bridge; Ptosis; Punctate vertebral calcifications; Scarring alopecia of scalp; Scoliosis; Seizures; Short neck; Short stature; Sparse and thin eyebrow; Sparse eyelashes; Stippled calcification in carpal bones; Tarsal stippling; Tracheal calcification; Tracheal stenosis; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
EXT18q24.11100%gene with protein product608177LGCR, LGSAbnormality of femur morphology; Abnormality of the dentition; Abnormality of the foot; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of tibia morphology; Anteverted nares; Aplasia/Hypoplasia of the mandible; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bulbous nose; Cervical myelopathy; Chondrosarcoma; Cone-shaped epiphyses of the phalanges of the hand; Coxa vara; Cranial nerve paralysis; Deep philtrum; Delayed skeletal maturation; Failure to thrive; Genu valgum; Hypoplasia of the ulna; Intellectual disability; Joint dislocation; Joint hyperflexibility; Juvenile onset; Long philtrum; Low-set, posteriorly rotated ears; Madelung deformity; Madelung-like forearm deformities; Micromelia; Multiple exostoses; Multiple long-bone exostoses; Muscle weakness; Pelvic bone exostoses; Peripheral nerve compression; Protruding ear; Protuberances at ends of long bones; Radial bowing; Redundant skin; Rib exostoses; Scapular exostoses; Short metacarpal; Short stature; Sparse scalp hair; Thick eyebrow; Thin upper lip vermilion
GCDH19p13.13100%gene with protein product608801Abnormal facial shape; Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Choreoathetosis; Delayed myelination; Dilation of lateral ventricles; Dyskinesia; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Glutaric acidemia; Glutaric aciduria; Hepatomegaly; Hypoglycemia; Infantile encephalopathy; Irritability; Joint dislocation; Ketonuria; Ketosis; Large fontanelles; Macrocephaly; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Prominent forehead; Rigidity; Spastic diplegia; Spasticity; Symmetrical progressive peripheral demyelination; Vomiting
HFE6p22.2100%gene with protein product613609Abdominal pain; Abnormal glucose tolerance; Abnormality of the hypothalamus-pituitary axis; Alopecia; Amenorrhea; Arrhythmia; Arthralgia; Arthropathy; Ascites; Autosomal recessive inheritance; Azoospermia; Cardiomegaly; Cardiomyopathy; Chondrocalcinosis; Cirrhosis; Congestive heart failure; Diabetes mellitus; Elevated hepatic transaminases; Fatigue; Gynecomastia; Hepatic steatosis; Hepatocellular carcinoma; Hepatomegaly; Hyperpigmentation of the skin; Hypogonadism; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Joint dislocation; Limitation of joint mobility; Osteoporosis; Pleural effusion; Splenomegaly; Telangiectasia; Testicular atrophy
HGD3q13.3399.98%gene with protein product607474AKUAbnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the nail; Abnormality of the nose; Abnormality of the urinary system; Abnormality of vision; Aminoaciduria; Aortic aneurysm; Aortic valve calcification; Arthralgia; Arthritis; Arthropathy; Autosomal recessive inheritance; Back pain; Blue sclerae; Calcification of cartilage; Cartilage destruction; Coronary artery calcification; Growth abnormality; Hearing abnormality; Intervertebral disc degeneration; Intervertebral disk calcification; Irregular hyperpigmentation; Joint dislocation; Joint stiffness; Joint swelling; Kyphosis; Mitral valve calcification; Nephrolithiasis; Osteoarthritis; Pigmentation of the sclera; Prostatitis; Tendon rupture; Thickened Achilles tendon; Vertebral fusionNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
IL2RB22q12.3100%gene with protein product146710IL15RBAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
NLRC42p22.399.94%gene with protein product606831CARD12Abnormal thrombocyte morphology; Abnormality of neutrophils; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Delayed closure of the anterior fontanelle; Disseminated intravascular coagulation; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Enterocolitis; Episodic; Erythema; Failure to thrive; Fatigue; Fever; Frontal bossing; Headache; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Increased serum ferritin; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Pancytopenia; Papule; Proptosis; Pruritus; Pseudopapilledema; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisInflammatory Bowel Disease
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
PHEXXp22.1199.84%gene with protein product300550HYP, HPDRAbnormality of dental enamel; Abnormality of pelvic girdle bone morphology; Abnormality of the metaphysis; Arthralgia; Bone pain; Bowing of the legs; Craniosynostosis; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enthesitis; Femoral bowing; Fibular bowing; Flattening of the talar dome; Frontal bossing; Genu varum; Hypomineralization of enamel; Hypophosphatemia; Hypophosphatemic rickets; Joint dislocation; Metaphyseal irregularity; Osteoarthritis; Osteomalacia; Phenotypic variability; Rachitic rosary; Renal phosphate wasting; Renal tubular dysfunction; Rickets; Short stature; Shortening of the talar neck; Spinal canal stenosis; Spinal cord compression; Tibial bowing; Tooth abscess; Trapezoidal distal femoral condyles; X-linked dominant inheritance
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
PTPN218p11.2199.84%gene with protein product176887PTPTAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
RECQL48q24.399.97%gene with protein product603780Abnormal heart morphology; Abnormal vertebral morphology; Abnormality of the carpal bones; Abnormality of the kidney; Abnormality of the metacarpal bones; Abnormality of the nail; Absent eyebrow; Absent eyelashes; Absent radius; Absent thumb; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Anal atresia; Annular pancreas; Anomalous splenoportal venous system; Anteriorly placed anus; Aphalangy of the hands; Aplasia of metacarpal bones; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Autosomal recessive inheritance; Basal cell carcinoma; Bicoronal synostosis; Bifid uvula; Blepharophimosis; Bowing of the long bones; Brachyturricephaly; Brittle hair; Carpal bone aplasia; Carpal synostosis; Cataract; Choanal stenosis; Cleft palate; Concave nasal ridge; Conductive hearing impairment; Coronal craniosynostosis; Cryptorchidism; Cutaneous photosensitivity; Delayed eruption of teeth; Dermal atrophy; Diarrhea; Downslanted palpebral fissures; Epicanthus; Failure to thrive in infancy; Flat forehead; Forearm reduction defects; Frontal bossing; Glaucoma; Growth delay; Hand oligodactyly; Hearing impairment; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the radius; Hypoplasia of the ulna; Hypotrichosis; Increased number of teeth; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Juvenile zonular cataracts; Lambdoidal craniosynostosis; Large fontanelles; Limited elbow movement; Limited shoulder movement; Long face; Low-set, posteriorly rotated ears; Malabsorption; Mandibular prognathia; Microcornea; Microdontia; Micrognathia; Microphthalmia; Midface capillary hemangioma; Mottled pigmentation; Myopia; Nail dystrophy; Narrow mouth; Optic atrophy; Osteoporosis; Osteosarcoma; Palmoplantar keratoderma; Patellar hypoplasia; Perineal fistula; Poikiloderma; Polymicrogyria; Premature graying of hair; Prematurely aged appearance; Prominent nasal bridge; Proptosis; Rectovaginal fistula; Rib fusion; Sagittal craniosynostosis; Scoliosis; Seizures; Short chin; Short foot; Short humerus; Short nose; Short palm; Short stature; Short thumb; Skeletal dysplasia; Slender nose; Small hand; Sparse hair; Spina bifida occulta; Squamous cell carcinoma; Stiff interphalangeal joints; Strabismus; Talipes equinovarus; Telangiectasia; Ulnar bowing; Underdeveloped nasal alaeVACTERL Association
SLC40A12q32.299.99%gene with protein product604653SLC11A3, FPN1Abdominal pain; Arrhythmia; Arthralgia; Autosomal dominant inheritance; Cardiomyopathy; Cataract; Fatigue; Generalized hyperpigmentation; Glucose intolerance; Hepatic steatosis; Impotence; Increased serum ferritin; Joint dislocation; Joint swelling; Limitation of joint mobility; Osteoarthritis
SMARCA29p24.398.93%gene with protein product600014SNF2L2Abnormal hair pattern; Abnormality of the metacarpal bones; Absence seizures; Absent eyebrow; Absent speech; Aggressive behavior; Alopecia; Anteverted nares; Aphasia; Autosomal dominant inheritance; Blepharophimosis; Brachydactyly; Broad distal phalanx of finger; Broad philtrum; Clubbing of toes; Cryptorchidism; Curly eyelashes; Dysphasia; Echolalia; Eczema; Epileptic spasms; Everted lower lip vermilion; Excessive wrinkled skin; Failure to thrive; Global developmental delay; High, narrow palate; Highly arched eyebrow; Hypotrichosis; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint dislocation; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Mutism; Narrow nasal bridge; Poor speech; Prominent interphalangeal joints; Sandal gap; Scoliosis; Seizures; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short phalanx of finger; Smooth philtrum; Sparse scalp hair; Specific learning disability; Status epilepticus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Triangular face; Wide intermamillary distance; Wide mouth; Wide nasal base
SSR4Xq2899.98%gene with protein product300090Abnormal facial shape; Abnormality of upper lip vermillion; Clinodactyly; Congenital onset; Deeply set eye; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hypospadias; Intellectual disability; Joint dislocation; Macrotia; Microcephaly; Micrognathia; Scoliosis; Seizures; Strabismus; Type I transferrin isoform profile; Vomiting; Wide mouth; Widely spaced teeth; X-linked recessive inheritance
STAT42q32.2-q32.399.99%gene with protein product600558Abdominal pain; Abnormal blistering of the skin; Acne; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Confusion; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Polyarticular arthritis; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
TCTN310q24.1100%gene with protein product613847C10orf61Abnormal oral frenulum morphology; Abnormality of eye movement; Abnormality of the gingiva; Abnormality of the tongue; Absent testis; Accessory oral frenulum; Aplasia/Hypoplasia of the tibia; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical hemiatrophy; Choanal atresia; Cleft palate; Clinodactyly; Conductive hearing impairment; Decreased testicular size; Depressed nasal ridge; Epicanthus; Failure to thrive; Feeding difficulties; Finger syndactyly; Foot polydactyly; Genu varum; Global developmental delay; Hamartoma; Hamartoma of tongue; Hand polydactyly; High palate; High, narrow palate; Horseshoe kidney; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Joint laxity; Kyphoscoliosis; Laryngomalacia; Lobulated tongue; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Micromelia; Microtia, third degree; Molar tooth sign on MRI; Monorchism; Oligohydramnios; Oral synechia; Pectus excavatum; Phenotypic variability; Polydactyly; Porencephalic cyst; Postaxial hand polydactyly; Posteriorly rotated ears; Preaxial hand polydactyly; Proptosis; Recurrent respiratory infections; Retrognathia; Severe short stature; Short finger; Short nose; Short stature; Short tibia; Specific learning disability; Split hand; Subcortical cerebral atrophy; Submucous cleft hard palate; Toe syndactyly; Tongue nodules; Ventricular septal defect; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
TGDS13q32.198.79%gene with protein product616146Abnormality of epiphysis morphology; Abnormality of the pinna; Autosomal recessive inheritance; Camptodactyly; Chronic otitis media; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Cystic hygroma; Dextrocardia; Failure to thrive; Full cheeks; Global developmental delay; Glossoptosis; High palate; Highly arched eyebrow; Hyperphalangy of the 2nd finger; Inguinal hernia; Intrauterine growth retardation; Joint dislocation; Joint laxity; Joint stiffness; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Micrognathia; Overriding aorta; Pectus carinatum; Pectus excavatum; Postnatal growth retardation; Scoliosis; Seizures; Short neck; Short stature; Single transverse palmar crease; Talipes equinovarus; Ulnar deviation of the 2nd finger; Umbilical hernia; Ventricular septal defect
TRPS18q23.3100%gene with protein product604386Abnormality of the nervous system; Abnormally low-pitched voice; Accelerated bone age after puberty; Aplasia/Hypoplasia of the mandible; Arthralgia; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bone pain; Bulbous nose; Camptodactyly of finger; Carious teeth; Chin with horizontal crease; Clinodactyly of the 5th finger; Concave nail; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphyses of the proximal phalanges of the hand; Cone-shaped epiphysis; Coxa magna; Deep philtrum; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Fine hair; Flat capital femoral epiphysis; Fragile nails; Frontal bossing; Generalized hypotonia; High palate; Hyperlordosis; Increased number of teeth; Infantile muscular hypotonia; Intellectual disability; Ivory epiphyses of the distal phalanges of the hand; Joint dislocation; Joint hyperflexibility; Leukonychia; Long philtrum; Long upper lip; Low-set, posteriorly rotated ears; Macrotia; Microdontia; Micrognathia; Multiple long-bone exostoses; Muscular hypotonia; Narrow palate; Osteoarthritis; Osteopenia; Pear-shaped nose; Pectus carinatum; Pes planus; Protruding ear; Recurrent respiratory infections; Redundant skin; Scapular winging; Scoliosis; Short distal phalanx of finger; Short finger; Short foot; Short metacarpal; Short metatarsal; Short palm; Short phalanx of finger; Short stature; Shortening of all phalanges of fingers; Slow-growing hair; Smooth philtrum; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Swelling of proximal interphalangeal joints; Thick eyebrow; Thin eyebrow; Thin nail; Thin upper lip vermilion; Triangular face; Underdeveloped nasal alae
TYK219p13.299.99%gene with protein product176941Antinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Immunodeficiency; Increased IgE level; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Recurrent fungal infections; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent viral infectionsAutoimmune Disorders
VDR12q13.11100%gene with protein product601769Abdominal wall muscle weakness; Abnormal adipose tissue morphology; Abnormal form of the vertebral bodies; Abnormality of the hip bone; Abnormality of the metaphysis; Abnormality of the skin; Abnormality of the thorax; Alopecia; Alopecia universalis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone cyst; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Carious teeth; Deformed rib cage; Delayed epiphyseal ossification; Delayed eruption of teeth; Difficulty standing; Difficulty walking; Dolichocephaly; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enlargement of the ankles; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Gait disturbance; Generalized hypotonia; Genu varum; Growth delay; Hyperparathyroidism; Hypocalcemia; Hypocalcemic seizures; Hypophosphatemia; Hypoplasia of dental enamel; Increased serum 1,25-dihydroxyvitamin D3; Infantile onset; Irritability; Joint dislocation; Metaphyseal irregularity; Motor delay; Nephrolithiasis; Osteolysis; Osteomalacia; Osteoporosis; Premature loss of primary teeth; Protuberant abdomen; Recurrent fractures; Rickets; Rough bone trabeculation; Secondary hyperparathyroidism; Short stature; Sparse bone trabeculae; Subperiosteal bone resorption; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures


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