XomeDxSlice Tool

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

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Phenotypes
Short metatarsal

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
B3GLCT13q12.399.62%gene with protein productFormer name = B3GALTL610308B3GALTLAbnormal cardiac septum morphology; Abnormality of the pulmonary artery; Agenesis of corpus callosum; Agenesis of maxillary lateral incisor; Anterior chamber synechiae; Atrial septal defect; Autosomal recessive inheritance; Biliary tract abnormality; Bilobate gallbladder; Birth length less than 3rd percentile; Brachycephaly; Brachydactyly; Broad neck; Cataract; Cerebral atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Clitoral hypoplasia; Conical incisor; Corneal opacity; Craniosynostosis; Cryptorchidism; Decreased body weight; Decreased fetal movement; Diastasis recti; Disproportionate short-limb short stature; Facial hypertrichosis; Feeding difficulties in infancy; Frontal bossing; Glaucoma; Global developmental delay; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint laxity; Limited elbow movement; Long philtrum; Macrocephaly; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia, second degree; Myopia; Nystagmus; Pectus excavatum; Pes cavus; Peters anomaly; Polyhydramnios; Postnatal growth retardation; Preauricular pit; Preauricular skin tag; Prominent forehead; Protruding ear; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Retinal coloboma; Rhizomelia; Round face; Scoliosis; Seizures; Short columella; Short foot; Short lingual frenulum; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short toe; Single transverse palmar crease; Square pelvis bone; Stenosis of the external auditory canal; Syndactyly; Thin upper lip vermilion; Toe syndactyly; Umbilical hernia; Upslanted palpebral fissure; Ureteral duplication; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide anterior fontanel; Wide intermamillary distanceDisorders of Sex Development
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
CANT117q25.3100%gene with protein product613165Abnormality of the eyelashes; Abnormality of the metaphysis; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Autosomal recessive inheritance; Bell-shaped thorax; Bifid distal phalanx of the thumb; Blue sclerae; Brachydactyly; Broad femoral neck; Broad first metatarsal; Camptodactyly of finger; Clinodactyly of the 5th finger; Congenital glaucoma; Coxa valga; Coxa vara; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow dislocation; Flat acetabular roof; Flattened epiphysis; Generalized hypotonia; Genu recurvatum; Genu varum; Glaucoma; Hyperlordosis; Hypotrichosis; Intellectual disability; Joint hyperflexibility; Joint laxity; Kyphosis; Low-set, posteriorly rotated ears; Malar flattening; Medial deviation of the foot; Metaphyseal widening; Microretrognathia; Midface retrusion; Motor delay; Myopia; Narrow chest; Narrow mouth; Obesity; Osteoarthritis; Osteoporosis; Partial duplication of the distal phalanx of the hallux; Patellar dislocation; Pes planus; Phalangeal dislocation; Platyspondyly; Proptosis; Proximal fibular overgrowth; Radioulnar dislocation; Radioulnar synostosis; Round face; Sandal gap; Scoliosis; Severe short stature; Short 1st metacarpal; Short femoral neck; Short metatarsal; Short neck; Short nose; Small hand; Talipes equinovarus; Variable expressivity; Ventricular septal defect; Waddling gaitObesity
CHSY115q26.399.69%gene with protein product608183Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Brachydactyly; Carpal synostosis; Clinodactyly; Deep philtrum; Diastema; Highly arched eyebrow; Hitchhiker thumb; Microdontia; Short metacarpal; Short metatarsal; Syndactyly; Synophrys; Talon cusp; Tarsal synostosis
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
DYM18q21.1100%gene with protein product607461Abnormality of epiphysis morphology; Abnormality of the ilium; Abnormality of the metaphysis; Abnormality of the wrist; Atlantoaxial instability; Autosomal recessive inheritance; Barrel-shaped chest; Beaking of vertebral bodies; Broad foot; Broad palm; Camptodactyly; Carpal bone hypoplasia; Coarse facial features; Cone-shaped epiphyses of the phalanges of the hand; Deformed sella turcica; Delayed femoral head ossification; Disproportionate short-trunk short stature; Dolichocephaly; Enlargement of the costochondral junction; Flat acetabular roof; Flat glenoid fossa; Genu valgum; Genu varum; Global developmental delay; Hip dislocation; Hyperlordosis; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic facial bones; Hypoplastic iliac wing; Hypoplastic scapulae; Iliac crest serration; Intellectual disability; Irregular epiphyses; Joint stiffness; Kyphosis; Lumbar hyperlordosis; Mandibular prognathia; Metaphyseal irregularity; Microcephaly; Micromelia; Multicentric femoral head ossification; Multicentric ossification of proximal femoral epiphyses; Multicentric ossification of proximal humeral epiphyses; Narrow greater sacrosciatic notches; Neurological speech impairment; Pectus carinatum; Platyspondyly; Postnatal growth retardation; Prominent sternum; Rhizomelia; Scoliosis; Severe global developmental delay; Shield chest; Short metacarpal; Short metatarsal; Short neck; Short phalanx of finger; Short thorax; Skeletal dysplasia; Sloping forehead; Spinal canal stenosis; Thickened calvaria; Thoracic kyphosis; Waddling gait; Wide pubic symphysis
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
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
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
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
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
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
HOXD132q31.1100%gene with protein product142989HOX4I, SPD2-3 toe syndactyly; 2nd-5th toe middle phalangeal hypoplasia; 3-4 finger syndactyly; 3-4 toe syndactyly; 4-5 toe syndactyly; 6 metacarpals; Abnormal cardiac septum morphology; Abnormal vertebral morphology; Abnormality of the nasopharynx; Abnormality of the ribs; Abnormality of the sternum; Absent distal interphalangeal creases; Absent radius; Anal atresia; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Brachydactyly; Broad distal phalanx of the hallux; Broad distal phalanx of the thumb; Broad hallux; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Choanal atresia; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Contracture of the proximal interphalangeal joint of the 5th finger; Cutaneous finger syndactyly; Ectopic kidney; Enlarged proximal interphalangeal joints; Esophageal atresia; Failure to thrive; Finger syndactyly; Fused fourth and fifth metacarpals; Hallux valgus; Hydronephrosis; Hypoplasia of the radius; Hypospadias; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Large fontanelles; Laryngeal stenosis; Laryngomalacia; Mesoaxial hand polydactyly; Metacarpal synostosis; Metatarsal synostosis; Moderately short stature; Multiple impacted teeth; Occipital encephalocele; Oligodactyly; Patent ductus arteriosus; Patent urachus; Polyhydramnios; Postaxial foot polydactyly; Postnatal growth retardation; Preaxial polydactyly; Premature birth; Radioulnar synostosis; Renal agenesis; Renal dysplasia; Round face; Scoliosis; Short 5th metacarpal; Short clavicles; Short distal phalanx of finger; Short fifth metatarsal; Short metacarpal; Short metatarsal; Short middle phalanx of the 2nd finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short stature; Short thumb; Single umbilical artery; Spina bifida; Sporadic; Straight clavicles; Symphalangism affecting the phalanges of the hand; Syndactyly; Tethered cord; Tetralogy of Fallot; Toe syndactyly; Tracheal stenosis; Tracheoesophageal fistula; Transposition of the great arteries; Triphalangeal thumb; Type D brachydactyly; Type E brachydactyly; Ulnar deviation of finger; Ureteropelvic junction obstruction; Ventricular septal defect; Vertebral segmentation defect; Vesicoureteral reflux; Y-shaped metacarpalsHeterotaxy ; VACTERL Association
IFT5220q13.1299.95%gene with protein product617094C20orf9Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Carious teeth; Cone-shaped epiphyses of the phalanges of the hand; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Flat acetabular roof; Frontal bossing; Full cheeks; High forehead; Hypermetropia; Hypodontia; Hypoplasia of the corpus callosum; Hypotelorism; Joint hyperflexibility; Limb undergrowth; Low-set ears; Microdontia; Midface retrusion; Motor delay; Narrow chest; Osteoporosis; Pectus excavatum; Prominent occiput; Respiratory distress; Rhizomelia; Sandal gap; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Sparse hair; Telecanthus; Wide nasal bridgeShort-Rib Thoracic Dysplasia
KCNJ217q24.3100%gene with protein product600681Antegonial notching of mandible; Atrial fibrillation; Autosomal dominant inheritance; Bidirectional ventricular ectopy; Blepharophimosis; Brachydactyly; Bradycardia; Broad forehead; Bulbous nose; Cleft palate; Clinodactyly of the 5th finger; Clinodactyly of the 5th toe; Delayed eruption of permanent teeth; Delayed skeletal maturation; Depressivity; Facial asymmetry; Growth abnormality; High palate; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Joint laxity; Low-set ears; Malar flattening; Microcephaly; Oligodontia; Palpitations; Paroxysmal atrial fibrillation; Periodic hypokalemic paresis; Persistence of primary teeth; Preauricular pit; Prolonged QT interval; Prominent frontal sinuses; Prominent U wave; Scapular winging; Scoliosis; Short foot; Short mandibular rami; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short phalanx of finger; Shortened QT interval; Slender long bone; Small hand; Syncope; Tachycardia; Thin upper lip vermilion; Toe syndactyly; Triangular face
MAP3K76q15100%gene with protein product602614TAK1Abnormal form of the vertebral bodies; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the metaphysis; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Bowing of the long bones; Brachydactyly; Broad nasal tip; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital sensorineural hearing impairment; Craniofacial hyperostosis; Decreased testicular size; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Failure of eruption of permanent teeth; Failure to thrive; Freckling; Full cheeks; Fused cervical vertebrae; Gastroesophageal reflux; High palate; High, narrow palate; Hip contracture; Hypertelorism; Hypoplasia of the musculature; Irregular metacarpals; Joint laxity; Joint stiffness; Long fingers; Long metacarpals; Long philtrum; Micrognathia; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Patent ductus arteriosus; Patent foramen ovale; Pointed chin; Posterior vertebral hypoplasia; Posteriorly rotated ears; Prominent supraorbital ridges; Pseudoepiphyses; Pulmonic stenosis; Recurrent otitis media; Reduced number of teeth; Rib fusion; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short foot; Short metacarpal; Short metatarsal; Short palm; Short philtrum; Short stature; Strabismus; Subglottic stenosis; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Telecanthus; Thick eyebrow; Tracheal stenosis; Ulnar deviation of finger; Ulnar deviation of the hand; Upslanted palpebral fissure; Vesicoureteral reflux; Wide nasal bridge
NPR29p13.399.95%gene with protein product108961ANPRB, NPRB, AMDMAcromesomelia; Arachnodactyly; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bowing of the long bones; Brachydactyly; Broad finger; Broad hallux; Broad metacarpals; Broad metatarsal; Broad phalanx; Cone-shaped epiphyses of the phalanges of the hand; Depressed nasal bridge; Disproportionate short stature; Dolichocephaly; Flared metaphysis; Frontal bossing; Hyperlordosis; Hypoplasia of the radius; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limited elbow extension; Long hallux; Lower thoracic kyphosis; Lumbar hyperlordosis; Osteopenia; Ovoid vertebral bodies; Prominent forehead; Proportionate short stature; Radial bowing; Redundant skin on fingers; Scoliosis; Short metacarpal; Short metatarsal; Short nail; Short nose; Short phalanx of finger; Short toe; Sprengel anomaly; Tall stature; Thoracolumbar interpediculate narrowness; Thoracolumbar kyphosis; Vertebral wedging
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
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
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
POC1A3p21.2100%gene with protein product614783WDR51AAutosomal recessive inheritance; Brachydactyly; Clinodactyly; Cone-shaped epiphysis; Disproportionate short stature; High pitched voice; Hypoplastic pelvis; Hypoplastic sacrum; Long face; Macrocephaly; Mandibular prognathia; Microcephaly; Microtia; Nail dysplasia; Oligospermia; Pointed chin; Prominent forehead; Prominent nose; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short metatarsal; Small for gestational age; Small hand; Small nail; Sparse hair; Triangular face; Waddling gaitHeterotaxy
PORCNXp11.2399.99%gene with protein product300651DHOFAbnormal palmar dermatoglyphics; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the larynx; Abnormality of the middle ear; Abnormality of the nail; Abnormality of the pinna; Absent fingernail; Absent toenail; Agenesis of corpus callosum; Alopecia; Aniridia; Anophthalmia; Anteriorly placed anus; Arnold-Chiari malformation; Bifid ureter; Brachydactyly; Brittle hair; Broad nasal tip; Camptodactyly of finger; Chorioretinal coloboma; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypoplasia; Cognitive impairment; Congenital diaphragmatic hernia; Congenital hip dislocation; Corneal opacity; Cryptorchidism; Delayed eruption of teeth; Dental malocclusion; Dermal atrophy; Diastasis recti; Ectopia lentis; Erythema; Facial asymmetry; Finger syndactyly; Foot oligodactyly; Foot polydactyly; Hand oligodactyly; Hand polydactyly; Hearing impairment; Hiatus hernia; Horseshoe kidney; Hydrocephalus; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the iris; Hypoplastic nipples; Hypoplastic pelvis; Inguinal hernia; Intellectual disability; Intestinal malrotation; Iris coloboma; Joint laxity; Labial hypoplasia; Linear hyperpigmentation; Low-set ears; Lower limb asymmetry; Macule; Microcephaly; Microphthalmia; Midclavicular aplasia; Midclavicular hypoplasia; Mixed hearing impairment; Multicystic kidney dysplasia; Myelomeningocele; Nail dysplasia; Nail dystrophy; Narrow nasal bridge; Nystagmus; Oligodontia; Omphalocele; Open bite; Optic atrophy; Osteopathia striata; Papilloma; Patchy alopecia; Pointed chin; Postaxial hand polydactyly; Reduced number of teeth; Reduced visual acuity; Reticular hyperpigmentation; Rough bone trabeculation; Scoliosis; Short clavicles; Short finger; Short metacarpal; Short metatarsal; Short phalanx of finger; Short ribs; Short stature; Sparse hair; Spina bifida; Spina bifida occulta; Split foot; Split hand; Stenosis of the external auditory canal; Strabismus; Subcutaneous nodule; Supernumerary nipple; Telangiectasia; Telangiectasia of the skin; Thin skin; Toe syndactyly; Umbilical hernia; Upper limb asymmetry; Ureteral duplication; Visual impairment; X-linked dominant inheritanceEctodermal Dysplasia
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
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
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
PRMT716q22.199.89%gene with protein product610087Astigmatism; Autosomal recessive inheritance; Brachydactyly; Broad nasal tip; Deeply set eye; Delayed myelination; Delayed speech and language development; Depressed nasal bridge; Epicanthus; Frontal bossing; Generalized hypotonia; Global developmental delay; High palate; Infantile onset; Intellectual disability; Long philtrum; Malar flattening; Microcephaly; Obesity; Pseudohypoparathyroidism; Retrognathia; Seizures; Short metacarpal; Short metatarsal; Short neck; Short palpebral fissure; Short stature; Strabismus; Thin vermilion border; Underdeveloped supraorbital ridges; Wide nasal bridgeObesity
PTHLH12p11.22100%gene with protein product168470Autosomal dominant inheritance; Brachydactyly; Joint hyperflexibility; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Type E brachydactyly
RAB33B4q31.1100%gene with protein product605950Autosomal recessive inheritance; Barrel-shaped chest; Broad femoral neck; Broad phalanx; Decreased body weight; Disproportionate short-trunk short stature; Flattened femoral head; Genu valgum; Hypoplasia of the odontoid process; Pectus carinatum; Pes planus; Platyspondyly; Short metacarpal; Short metatarsal; Short neck; Short phalanx of finger
RBPJ4p15.2100%gene with protein product147183IGKJRB1, RBPSUH2-3 toe syndactyly; Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Autosomal dominant inheritance; Brachydactyly; Calvarial skull defect; Cataract; Cutis marmorata; Failure to thrive; Finger syndactyly; Hydrocephalus; Microcephaly; Microphthalmia; Pulmonary artery atresia; Short distal phalanx of finger; Short metatarsal; Sparse hair; Split hand; Strabismus; Talipes; Tetralogy of Fallot
SALL116q12.1100%gene with protein product602218TBS2-3 toe syndactyly; 3-4 finger syndactyly; 3-4 toe syndactyly; Anal atresia; Anal stenosis; Anteriorly placed anus; Aplasia/Hypoplasia of the 3rd toe; Autosomal dominant inheritance; Bifid scrotum; Bifid uterus; Broad thumb; Chorioretinal coloboma; Clinodactyly of the 5th finger; Constipation; Cryptorchidism; Duodenal atresia; External ear malformation; Gastroesophageal reflux; Hearing impairment; Hypospadias; Hypothyroidism; Intellectual disability; Macrotia; Metatarsal synostosis; Microcephaly; Microtia; Overfolded helix; Overfolding of the superior helices; Partial duplication of thumb phalanx; Pes planus; Preauricular skin tag; Preaxial hand polydactyly; Pseudoepiphyses of second metacarpal; Rectoperineal fistula; Rectovaginal fistula; Renal insufficiency; Satyr ear; Short metatarsal; Stahl ear; Subcutaneous nodule; Tetralogy of Fallot; Toe clinodactyly; Triphalangeal thumb; Umbilical hernia; Urethral valve; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; VACTERL Association
SIL15q31.2100%gene with protein product608005MSSAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Centrally nucleated skeletal muscle fibers; Cerebellar cortical atrophy; Cerebellar hypoplasia; Congenital cataract; Coxa valga; Cubitus valgus; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Failure to thrive; Flexion contracture; Gait ataxia; Generalized hypotonia; Global developmental delay; Hip dislocation; Hip dysplasia; Hypergonadotropic hypogonadism; Hypogonadism; Infantile onset; Intellectual disability; Kyphosis; Limb ataxia; Metatarsus valgus; Microcephaly; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Pes planus; Progressive muscle weakness; Rigidity; Scoliosis; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; StrabismusRhabdomyolysis
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
TBL1XR13q26.32100%gene with protein product608628Abnormal peripheral nervous system morphology; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brachycephaly; Brachydactyly; Broad face; Broad foot; Broad hallux; Broad palm; Broad philtrum; Broad thumb; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Decreased body weight; Deep palmar crease; Deep plantar creases; Deeply set eye; Delayed speech and language development; Dysarthria; Enuresis nocturna; Everted lower lip vermilion; Feeding difficulties in infancy; Full cheeks; Global developmental delay; High anterior hairline; High forehead; High palate; Hyperreflexia; Hypertelorism; Hypoplastic areola; Intellectual disability; Large fleshy ears; Long upper lip; Malar flattening; Microcephaly; Midface retrusion; Narrow face; Nasal speech; Pectus carinatum; Pectus excavatum; Pes planus; Phenotypic variability; Posteriorly rotated ears; Progressive spastic paraplegia; Scissor gait; Short finger; Short foot; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Smooth philtrum; Telecanthus; Unilateral narrow palpebral fissure; Wide intermamillary distance; Wide nose; Widely spaced teeth
TCF418q21.2100%gene with protein product602272Abnormal large intestine physiology; Abnormality of the palate; Absent speech; Acrocyanosis; Aggressive behavior; Anteverted nares; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Ascites; Astigmatism; Autoimmunity; Autosomal dominant inheritance; Broad fingertip; Cirrhosis; Clinodactyly; Clubbing; Coarse facial features; Constipation; Cryptorchidism; Cupped ear; Deeply set eye; Dilated superficial abdominal veins; Dysautonomia; Dysphasia; Echolalia; Elevated alkaline phosphatase of hepatic origin; Elevated hepatic transaminases; Encephalopathy; Esophagitis; Failure of eruption of permanent teeth; Failure to thrive; Feeding difficulties; Fever; Finger clinodactyly; Full cheeks; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hiatus hernia; Hyperventilation; Hypoplasia of the corpus callosum; Incoordination; Intellectual disability, moderate; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Microcephaly; Micropenis; Misalignment of teeth; Motor delay; Muscular hypotonia; Mutism; Myopia; Narrow foot; Narrow forehead; Open mouth; Overhanging nasal tip; Palmar telangiectasia; Pes planus; Pes valgus; Portal hypertension; Prominent nasal bridge; Seizures; Short metatarsal; Short neck; Short philtrum; Single transverse palmar crease; Sleep apnea; Small cerebral cortex; Small hand; Specific learning disability; Spider hemangioma; Splenomegaly; Strabismus; Tapered finger; Thick vermilion border; Thickened helices; Triangular nasal tip; Ulcerative colitis; Upslanted palpebral fissure; Weight loss; Wide mouth; Wide nasal bridge; Widely spaced teeth
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
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
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
VPS13B8q22.2100%gene with protein product607817CHS1, COH1Abnormality of skin pigmentation; Aplasia/Hypoplasia of the tongue; Arachnodactyly; Autosomal recessive inheritance; Cat cry; Cerebellar hypoplasia; Childhood-onset truncal obesity; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Convex nasal ridge; Cubitus valgus; Decreased fetal movement; Delayed puberty; Downslanted palpebral fissures; Facial hypotonia; Failure to thrive in infancy; Feeding difficulties in infancy; Finger syndactyly; Generalized hypotonia; Genu valgum; Gingival overgrowth; Global developmental delay; Growth hormone deficiency; High, narrow palate; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Laryngomalacia; Leukopenia; Long eyelashes; Low anterior hairline; Lumbar hyperlordosis; Macrodontia; Macrodontia of permanent maxillary central incisor; Microcephaly; Micrognathia; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow palm; Neonatal hypotonia; Neurological speech impairment; Neutropenia; Obesity; Open mouth; Optic atrophy; Pes planus; Prominent nasal bridge; Reduced number of teeth; Reduced visual acuity; Sandal gap; Seizures; Short metacarpal; Short metatarsal; Short philtrum; Short stature; Single transverse palmar crease; Slender toe; Small for gestational age; Tapered finger; Thick corpus callosum; Thick eyebrow; Thick hair; Thoracic scoliosis; Visual impairment; Weak cryAplastic Anemia ; Bone Marrow Failure Syndromes ; Obesity


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome