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Phenotypes
Hypoplasia of the ulna

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
APC5q22.2100%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. Please see our oncology genetics test menu for additional options: https://www.genedx.com/test-catalog/medical-specialty/oncology/611731Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the metacarpal bones; Abnormality of the musculature; Absent fingernail; Absent toenail; Adenomatous colonic polyposis; Adrenocortical carcinoma; Astrocytoma; Autosomal dominant inheritance; Colon cancer; Desmoid tumors; Downslanted palpebral fissures; Epidermoid cyst; Finger syndactyly; Frontal bossing; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Increased level of L-fucose in urine; Intestinal polyposis; Keloids; Malabsorption; Micronodular cirrhosis; Multiple gastric polyps; Multiple lipomas; Myalgia; Neoplasm of the stomach; Odontoma; Radioulnar synostosis; Renal cell carcinoma; Short thumb; Small intestine carcinoid; Somatic mutation; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous nodule; Synostosis of carpal bones; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Variable expressivity
B2M15q21.1100%gene with protein product109700Autonomic bladder dysfunction; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowel incontinence; Bronchiectasis; Cholestasis; Chronic constipation; Chronic diarrhea; Edema; Gastrointestinal dysmotility; Gastrointestinal hemorrhage; Generalized amyloid deposition; Hematuria; Hepatomegaly; Hypertension; Hypoalbuminemia; Hypoplasia of the ulna; Hypoproteinemia; IgG deficiency; Intermittent diarrhea; Keratoconjunctivitis sicca; Malabsorption; Nephropathy; Nephrotic syndrome; Orthostatic hypotension due to autonomic dysfunction; Proteinuria; Radial bowing; Recurrent respiratory infections; Skin rash; Splenomegaly; Variable expressivity; Vertigo; Weight loss; Xerostomia
BMPR1B4q22.3100%gene with protein product6032482-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Aplasia of the middle phalanges of the toes; Aplasia of the proximal phalanges of the hand; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad foot; Broad hallux; Carpal synostosis; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Cone-shaped epiphysis; Delayed speech and language development; Disproportionate short-limb short stature; Fibular aplasia; Fibular hypoplasia; Hallux valgus; Hypergonadotropic hypogonadism; Hypoplasia of the ulna; Hypoplasia of the uterus; Joint stiffness; Limitation of joint mobility; Medially deviated second toe; Micromelia; Narrow nasal bridge; Poor motor coordination; Postaxial hand polydactyly; Primary amenorrhea; Pseudoepiphyses of the 2nd finger; Radial deviation of finger; Radial deviation of the 2nd finger; Sarcoma; Short 2nd finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the thumb; Short femoral neck; Short finger; Short foot; Short hallux; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short proximal phalanx of finger; Short proximal phalanx of thumb; Short stature; Short thumb; Short tibia; Short toe; Skeletal dysplasia; Stippling of the epiphysis of the distal phalanx of the thumb; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 5th finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Widened proximal tibial metaphyses
CCDC819q13.32100%gene with protein product614145Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Delayed eruption of teeth; Delayed skeletal maturation; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Hip dysplasia; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Long philtrum; Malar flattening; Micromelia; Midface retrusion; Pointed chin; Protruding ear; Rocker bottom foot; Scapular winging; Short neck; Short stature; Short thorax; Slender long bone; Small for gestational age; Thick eyebrow; Thin ribs; Triangular face
CHST310q22.1100%gene with protein product603799Abnormal form of the vertebral bodies; Abnormality of cardiovascular system morphology; Abnormally large globe; Accelerated skeletal maturation; Amblyopia; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arthralgia; Arthropathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Bicuspid aortic valve; Bilateral elbow dislocations; Bilateral single transverse palmar creases; Brachycephaly; Brachydactyly; Broad distal phalanges of all fingers; Broad forehead; Camptodactyly of finger; Cardiomegaly; Cleft palate; Congenital glaucoma; Coronal cleft vertebrae; Cubitus valgus; Cutis laxa; Decreased hip abduction; Delayed eruption of teeth; Delayed gross motor development; Delayed skeletal maturation; Depressed nasal bridge; Deviation of the 5th finger; Disproportionate short-trunk short stature; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Enlarged joints; Enlarged metaphyses; Esotropia; Fixed elbow flexion; Flattened epiphysis; Flexion contracture; Frontal bossing; Generalized bone demineralization; Genu valgum; Hearing impairment; High palate; Highly arched eyebrow; Hip dislocation; Hydrocephalus; Hypermetropia; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the ulna; Intervertebral space narrowing; Irregular epiphyses; Irregular vertebral endplates; Joint laxity; Knee dislocation; Kyphoscoliosis; Left ventricular hypertrophy; Limited hip extension; Long philtrum; Low posterior hairline; Low-set ears; Lumbar hyperlordosis; Metatarsus adductus; Microdontia; Microtia; Midface retrusion; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Multiple carpal ossification centers; Multiple joint dislocation; Narrow chest; Narrow mouth; Narrow vertebral interpedicular distance; Osteopenia; Patent foramen ovale; Pes planus; Prominent forehead; Pulmonary arterial hypertension; Pulmonic stenosis; Radioulnar synostosis; Rhizomelia; Scoliosis; Shield chest; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short neck; Short phalanx of finger; Shoulder dislocation; Small epiphyses; Small face; Sparse and thin eyebrow; Sparse eyebrow; Spatulate thumbs; Spondyloepiphyseal dysplasia; Talipes equinovalgus; Talipes equinovarus; Thick eyebrow; Tibial bowing; Tricuspid regurgitation; Tricuspid stenosis; Ulnar bowing; Ventricular hypertrophy; Ventricular septal defect; Waddling gait; Wide intermamillary distance; Widely spaced teeth
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
CUL76p21.1100%gene with protein product609577KIAA0076Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Clinodactyly of the 5th finger; Decreased testicular size; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Hip dislocation; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypospadias; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Long philtrum; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Neonatal respiratory distress; Pectus excavatum; Pes planus; Pointed chin; Postnatal growth retardation; Protruding ear; Rocker bottom foot; Scapular winging; Short 5th finger; Short neck; Short ribs; Short stature; Short thorax; Slender long bone; Small for gestational age; Spina bifida occulta; Thick eyebrow; Thick lower lip vermilion; Thin ribs; Triangular face
DHODH16q22.2100%gene with protein product126064Abnormal dermatoglyphics; Abnormality of cardiovascular system morphology; Abnormality of the foot; Abnormality of the kidney; Autosomal recessive inheritance; Camptodactyly of finger; Choanal atresia; Cleft palate; Cleft upper lip; Conductive hearing impairment; Congenital hip dislocation; Conical tooth; Cryptorchidism; Cupped ear; Downslanted palpebral fissures; Ectropion; Ectropion of lower eyelids; Eyelid coloboma; Finger syndactyly; Hypoplasia of the radius; Hypoplasia of the ulna; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Micrognathia; Micropenis; Microtia; Midgut malrotation; Non-midline cleft lip; Pectus excavatum; Postnatal growth retardation; Pyloric stenosis; Radioulnar synostosis; Short thumb; Supernumerary nipple; Supernumerary vertebrae; Syndactyly
DHODH16q22.2100%gene with protein product126064Abnormal dermatoglyphics; Abnormality of cardiovascular system morphology; Abnormality of the foot; Abnormality of the kidney; Autosomal recessive inheritance; Camptodactyly of finger; Choanal atresia; Cleft palate; Cleft upper lip; Conductive hearing impairment; Congenital hip dislocation; Conical tooth; Cryptorchidism; Cupped ear; Downslanted palpebral fissures; Ectropion; Ectropion of lower eyelids; Eyelid coloboma; Finger syndactyly; Hypoplasia of the radius; Hypoplasia of the ulna; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Micrognathia; Micropenis; Microtia; Midgut malrotation; Non-midline cleft lip; Pectus excavatum; Postnatal growth retardation; Pyloric stenosis; Radioulnar synostosis; Short thumb; Supernumerary nipple; Supernumerary vertebrae; Syndactyly
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
EXT211p11.2100%gene with protein product608210Abnormality of femur morphology; Abnormality of the dentition; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of tibia morphology; Anteverted nares; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brachycephaly; Broad nasal tip; Cervical myelopathy; Chondrosarcoma; Coarse facial features; Constipation; Coxa vara; Cranial nerve paralysis; Cryptorchidism; Decreased skull ossification; Depressed nasal tip; Downturned corners of mouth; Epicanthus; Exostoses; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Global developmental delay; Hypertelorism; Hypoplasia of the ulna; Infantile onset; Juvenile onset; Macrocephaly; Madelung deformity; Madelung-like forearm deformities; Micrognathia; Micromelia; Micropenis; Multiple exostoses; Muscle weakness; Nystagmus; Overlapping toe; Parietal foramina; Pelvic bone exostoses; Peripheral nerve compression; Poor speech; Prominent nasal bridge; Protuberances at ends of long bones; Radial bowing; Rib exostoses; Scapular exostoses; Scoliosis; Seizures; Short metacarpal; Short philtrum; Short stature; Strabismus; Underdeveloped nasal alae; Ventricular septal defect
FGF105p12100%gene with protein product6021152-3 finger syndactyly; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Alacrima; Aplasia of the parotid gland; Autosomal dominant inheritance; Bilateral triphalangeal thumbs; Broad forehead; Broad hallux; Carious teeth; Clinodactyly of the 5th finger; Conical incisor; Corneal perforation; Coronal hypospadias; Cupped ear; Dacryocystitis; Delayed eruption of primary teeth; Downslanted palpebral fissures; Hyperextensible skin; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic lacrimal duct; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Mixed hearing impairment; Nasolacrimal duct obstruction; Nephrosclerosis; Partial duplication of thumb phalanx; Periorbital fullness; Preaxial polydactyly; Radial deviation of the 3rd finger; Recurrent corneal erosions; Renal agenesis; Small thenar eminence; Telecanthus; Xerostomia
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
GDF520q11.22100%gene with protein product6011462-3 toe syndactyly; Abnormal finger flexion creases; Abnormality of epiphysis morphology; Abnormality of the ankles; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Abnormally shaped carpal bones; Absent toe; Acromesomelia; Aplasia of the middle phalanges of the toes; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the thumb; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly of the 5th finger; Cognitive impairment; Complete duplication of distal phalanx of the thumb; Conductive hearing impairment; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphysis; Cuboidal metacarpal; Death in infancy; Deformed tarsal bones; Delayed eruption of teeth; Deviation of finger; Disproportionate short-limb short stature; Distal femoral bowing; Elbow ankylosis; Elbow dislocation; Enlarged epiphysis of the middle phalanx of the 2nd finger; Enlarged epiphysis of the middle phalanx of the 3rd finger; Enlarged epiphysis of the proximal phalanx of the 2nd finger; Enlarged epiphysis of the proximal phalanx of the 3rd finger; Fibular aplasia; Fibular hypoplasia; Finger symphalangism; Flexion contracture; Hallux valgus; Hip dislocation; Hip dysplasia; Hip osteoarthritis; Humeroradial synostosis; Hypersegmentation of proximal phalanx of second finger; Hypersegmentation of proximal phalanx of third finger; Hypodontia; Hypoplasia of the radius; Hypoplasia of the ulna; Joint stiffness; Limitation of joint mobility; Madelung deformity; Malaligned carpal bone; Medially deviated second toe; Metacarpophalangeal synostosis; Micromelia; Narrow nasal bridge; Neurological speech impairment; Patellar dislocation; Pes planus; Pes valgus; Polydactyly; Postaxial hand polydactyly; Proximal symphalangism; Proximal/middle symphalangism of 5th finger; Pseudoepiphyses of the 2nd finger; Pseudoepiphyses of the 3rd finger; Radial bowing; Radial deviation of the 2nd finger; Rhizomelia; Sarcoma; Scoliosis; Sensorineural hearing impairment; Severe short-limb dwarfism; Short 1st metacarpal; Short 2nd finger; Short 3rd finger; Short digit; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short palm; Short phalanx of finger; Short stature; Short thumb; Short tibia; Short toe; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Single transverse palmar crease; Skeletal dysplasia; Small nail; Stillbirth; Stippling of the epiphysis of the distal phalanx of the thumb; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Talipes equinovalgus; Tarsal synostosis; Triangular epiphysis of the middle phalanx of the 2nd finger; Triangular epiphysis of the middle phalanx of the 3rd finger; Triangular epiphysis of the proximal phalanx of the 2nd finger; Triangular epiphysis of the proximal phalanx of the 3rd finger; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 3rd finger; Triangular shaped middle phalanx of the 5th finger; Triangular shaped proximal phalanx of the 2nd finger; Triangular shaped proximal phalanx of the 3rd finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Ulnar deviation of the 3rd finger; Valgus hand deformity; Vertebral fusion; Wide nose
GDF520q11.22100%gene with protein product6011462-3 toe syndactyly; Abnormal finger flexion creases; Abnormality of epiphysis morphology; Abnormality of the ankles; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Abnormally shaped carpal bones; Absent toe; Acromesomelia; Aplasia of the middle phalanges of the toes; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the thumb; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly of the 5th finger; Cognitive impairment; Complete duplication of distal phalanx of the thumb; Conductive hearing impairment; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphysis; Cuboidal metacarpal; Death in infancy; Deformed tarsal bones; Delayed eruption of teeth; Deviation of finger; Disproportionate short-limb short stature; Distal femoral bowing; Elbow ankylosis; Elbow dislocation; Enlarged epiphysis of the middle phalanx of the 2nd finger; Enlarged epiphysis of the middle phalanx of the 3rd finger; Enlarged epiphysis of the proximal phalanx of the 2nd finger; Enlarged epiphysis of the proximal phalanx of the 3rd finger; Fibular aplasia; Fibular hypoplasia; Finger symphalangism; Flexion contracture; Hallux valgus; Hip dislocation; Hip dysplasia; Hip osteoarthritis; Humeroradial synostosis; Hypersegmentation of proximal phalanx of second finger; Hypersegmentation of proximal phalanx of third finger; Hypodontia; Hypoplasia of the radius; Hypoplasia of the ulna; Joint stiffness; Limitation of joint mobility; Madelung deformity; Malaligned carpal bone; Medially deviated second toe; Metacarpophalangeal synostosis; Micromelia; Narrow nasal bridge; Neurological speech impairment; Patellar dislocation; Pes planus; Pes valgus; Polydactyly; Postaxial hand polydactyly; Proximal symphalangism; Proximal/middle symphalangism of 5th finger; Pseudoepiphyses of the 2nd finger; Pseudoepiphyses of the 3rd finger; Radial bowing; Radial deviation of the 2nd finger; Rhizomelia; Sarcoma; Scoliosis; Sensorineural hearing impairment; Severe short-limb dwarfism; Short 1st metacarpal; Short 2nd finger; Short 3rd finger; Short digit; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short palm; Short phalanx of finger; Short stature; Short thumb; Short tibia; Short toe; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Single transverse palmar crease; Skeletal dysplasia; Small nail; Stillbirth; Stippling of the epiphysis of the distal phalanx of the thumb; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Talipes equinovalgus; Tarsal synostosis; Triangular epiphysis of the middle phalanx of the 2nd finger; Triangular epiphysis of the middle phalanx of the 3rd finger; Triangular epiphysis of the proximal phalanx of the 2nd finger; Triangular epiphysis of the proximal phalanx of the 3rd finger; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 3rd finger; Triangular shaped middle phalanx of the 5th finger; Triangular shaped proximal phalanx of the 2nd finger; Triangular shaped proximal phalanx of the 3rd finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Ulnar deviation of the 3rd finger; Valgus hand deformity; Vertebral fusion; Wide nose
IHH2q35100%gene with protein product600726Absent distal interphalangeal creases; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad metacarpal epiphyses; Broad nail; Broad palm; Clinodactyly of the 5th finger; Cone-shaped capital femoral epiphysis; Cone-shaped epiphysis; Cone-shaped epiphysis of the 1st metacarpal; Cone-shaped metacarpal epiphyses; Coxa vara; Cupped ribs; Delayed ossification of carpal bones; Delayed skeletal maturation; Disproportionate short stature; Disproportionate short-limb short stature; Distal symphalangism of hands; Dysplasia of the femoral head; Enlargement of the distal femoral epiphysis; Fibular overgrowth; Flared iliac wings; Flattened metatarsal heads; Genu varum; Heterogeneous; Hyperlordosis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic iliac wing; Lumbar hyperlordosis; Micromelia; Narrow chest; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Proportionate shortening of all digits; Radial deviation of the 2nd finger; Radial deviation of the 3rd finger; Radial deviation of the 4th finger; Relative macrocephaly; Scoliosis; Short distal phalanx of finger; Short femoral neck; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short middle phalanx of finger; Short palm; Short proximal phalanx of finger; Short proximal phalanx of hallux; Short proximal phalanx of thumb; Short ribs; Short stature; Short thumb; Short tibia; Skeletal dysplasia; Slender metacarpals; Small nail; Thin proximal phalanges with broad epiphyses of the hand
JAG120p12.2100%gene with protein product601920AGS, JAGL1Abnormal nasal morphology; Abnormality of the ribs; Areflexia; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Band keratopathy; Brachydactyly; Broad forehead; Butterfly vertebral arch; Cataract; Chorioretinal atrophy; Cirrhosis; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Dolichocephaly; Elevated hepatic transaminases; Exocrine pancreatic insufficiency; Failure to thrive; Hemivertebrae; Hepatocellular carcinoma; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hypoplasia of the ulna; Incomplete penetrance; Infantile onset; Intrauterine growth retardation; Long nose; Macrotia; Microcornea; Multiple small medullary renal cysts; Myopia; Papillary thyroid carcinoma; Peripheral pulmonary artery stenosis; Pigmentary retinopathy; Posterior embryotoxon; Preauricular pit; Prolonged neonatal jaundice; Proptosis; Reduced number of intrahepatic bile ducts; Renal dysplasia; Renal hypoplasia; Renal tubular acidosis; Short distal phalanx of finger; Specific learning disability; Strabismus; Stroke; Tetralogy of Fallot; Thin vermilion border; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral refluxVACTERL Association
LRP411p11.2100%gene with protein product6042702-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of the metacarpal bones; Abnormality of the nose; Absent fingernail; Absent toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Craniofacial hyperostosis; Curved distal phalanges of the hand; Cutaneous finger syndactyly; Diaphyseal thickening; Difficulty walking; Downslanted palpebral fissures; Facial palsy; Feeding difficulties; Finger syndactyly; Fingernail dysplasia; Frontal bossing; Hearing impairment; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Hyporeflexia; Increased bone mineral density; Macrocephaly; Mandibular prognathia; Micrognathia; Nail dysplasia; Prominent forehead; Ptosis; Radioulnar synostosis; Renal agenesis; Renal hypoplasia; Sensorineural hearing impairment; Short finger; Short thumb; Syndactyly; Synostosis of carpal bones; Tall stature; Toe syndactyly
LRP411p11.2100%gene with protein product6042702-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of the metacarpal bones; Abnormality of the nose; Absent fingernail; Absent toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Craniofacial hyperostosis; Curved distal phalanges of the hand; Cutaneous finger syndactyly; Diaphyseal thickening; Difficulty walking; Downslanted palpebral fissures; Facial palsy; Feeding difficulties; Finger syndactyly; Fingernail dysplasia; Frontal bossing; Hearing impairment; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Hyporeflexia; Increased bone mineral density; Macrocephaly; Mandibular prognathia; Micrognathia; Nail dysplasia; Prominent forehead; Ptosis; Radioulnar synostosis; Renal agenesis; Renal hypoplasia; Sensorineural hearing impairment; Short finger; Short thumb; Syndactyly; Synostosis of carpal bones; Tall stature; Toe syndactyly
OBSL12q35100%gene with protein product610991Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Delayed eruption of teeth; Delayed skeletal maturation; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Long philtrum; Malar flattening; Micromelia; Midface retrusion; Pointed chin; Prominent nasal tip; Protruding ear; Rocker bottom foot; Scapular winging; Short neck; Short stature; Short thorax; Slender long bone; Thick eyebrow; Thin ribs; Triangular face
PDE4D5q11.2-q12.199.75%gene with protein product600129DPDE3Abnormal form of the vertebral bodies; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Brachydactyly; Cerebral venous thrombosis; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congenital onset; Cryptorchidism; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Diabetes mellitus; Elevated calcitonin; Elevated circulating parathyroid hormone level; Epiphyseal stippling; Fair hair; Global developmental delay; Growth hormone deficiency; Hearing impairment; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased intracranial pressure; Intellectual disability; Intrauterine growth retardation; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Mild short stature; Narrow vertebral interpedicular distance; Obesity; Open mouth; Peripheral neuropathy; Pseudohypoparathyroidism; Red hair; Round face; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short phalanx of finger; Short stature; Short toe; Specific learning disability; Spinal canal stenosis; Wide nasal bridgeObesity
PIGT20q13.12100%gene with protein product610272Abdominal pain; Abnormality of the dentition; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral atrophy; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Diarrhea; Downturned corners of mouth; Dyspnea; EEG abnormality; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hemolytic anemia; High forehead; High palate; Hypercalciuria; Hypermetropia; Hypoplasia of the ulna; Infantile onset; Inverted nipples; Large for gestational age; Long philtrum; Macrocephaly; Narrow forehead; Nephrocalcinosis; Nystagmus; Open mouth; Osteopenia; Osteoporosis; Paroxysmal nocturnal hemoglobinuria; Patent ductus arteriosus; Pectus excavatum; Renal cyst; Restrictive cardiomyopathy; Scoliosis; Seizures; Somatic mutation; Strabismus; Ureteral stenosis; Urticaria; Visual impairment
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
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
RPL2617p13.1100%gene with protein product603704Abnormal eyelid morphology; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Anemia; Anemia of inadequate production; Arrhythmia; Atresia of the external auditory canal; Autosomal dominant inheritance; Bicuspid aortic valve; Bone marrow hypocellularity; Cleft palate; Delayed puberty; Fatigue; Forearm reduction defects; Hypoplasia of the radius; Hypoplasia of the ulna; Macrocytic anemia; Migraine; Neutropenia; Pallor; Renal agenesis; Short stature; Stenosis of the external auditory canalBone Marrow Failure Syndromes
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL Association
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL Association
SHOXXp22.33 and 100%gene with protein product312865, 400020Abnormality of calvarial morphology; Abnormality of epiphysis morphology; Abnormality of femur morphology; Abnormality of the carpal bones; Abnormality of the hip bone; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of the ulna; Aplasia/Hypoplasia of the fibula; Aplastic/hypoplastic toenail; Bowing of the long bones; Brachydactyly; Clinodactyly of the 5th finger; Cone-shaped epiphysis; Cubitus valgus; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dorsal subluxation of ulna; Elbow dislocation; Episodic ketoacidosis; Exostoses; Forearm undergrowth; Genu valgum; Genu varum; High palate; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic fingernail; Joint stiffness; Limited wrist movement; Lower limb undergrowth; Madelung deformity; Mesomelia; Mesomelic/rhizomelic limb shortening; Micrognathia; Micromelia; Obesity; Patellar aplasia; Radial bowing; Scoliosis; Severe short stature; Short femoral neck; Short foot; Short neck; Short stature; Short tibia; Skeletal muscle hypertrophy; Tibial bowing; Ulnar bowing; Ulnar deviation of finger; Ulnar radial head dislocation; Wide nasal bridge
TBX312q24.21100%gene with protein product601621UMSAbnormality of temperature regulation; Abnormality of the fingernails; Abnormality of the uterus; Abnormality of the wrist; Absent axillary hair; Absent radius; Anal atresia; Anal stenosis; Anterior pituitary hypoplasia; Aplasia of the ulna; Aplasia/Hypoplasia of the ulna; Autosomal dominant inheritance; Axillary apocrine gland hypoplasia; Breast hypoplasia; Cryptorchidism; Decreased fertility; Deformed radius; Delayed puberty; Ectopic posterior pituitary; Hypodontia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic nipples; Hypoplastic scapulae; Imperforate hymen; Inguinal hernia; Inverted nipples; Micropenis; Obesity; Postaxial hand polydactyly; Pyloric stenosis; Shawl scrotum; Short 4th toe; Short 5th toe; Short clavicles; Short humerus; Short stature; Sparse axillary hair; Sparse lateral eyebrow; Subglottic stenosis; Ventricular septal defectObesity
ZBTB1611q23.2100%gene with protein product176797ZNF145Absent thumb; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Cryptorchidism; Delayed skeletal maturation; Fibular hypoplasia; Hypoplasia of the ulna; Intellectual disability; Microcephaly; Micropenis; Narrow mouth; Short femur; Short stature; Short tibia; Strabismus; Supernumerary ribs; Thin vermilion border


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