XomeDxSlice Tool

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Phenotypes
Small hand

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADNP20q13.13100%gene with protein product611386Autistic behavior; Autosomal dominant inheritance; Downslanted palpebral fissures; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Infantile onset; Intellectual disability; Joint laxity; Language impairment; Obesity; Obsessive-compulsive behavior; Prominent forehead; Ptosis; Recurrent infections; Short nose; Short stature; Small hand; Smooth philtrum; Stereotypy; Strabismus; Thin upper lip vermilion; Visual impairment; Wide nasal bridge
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
CCBE118q21.32100%gene with protein product612753Abnormality of dental morphology; Ascites; Atrial septal defect; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Broad forehead; Camptodactyly; Conductive hearing impairment; Conical incisor; Coronal craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Ectopic kidney; Epicanthus; Erysipelas; External ear malformation; Flat face; Gingival overgrowth; Glaucoma; Hirsutism; Horseshoe kidney; Hydronephrosis; Hyperactivity; Hypertelorism; Hypoalbuminemia; Hypoplastic iliac wing; Increased number of teeth; Intellectual disability; Intestinal lymphangiectasia; Joint contracture of the hand; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Mild postnatal growth retardation; Narrow chest; Narrow mouth; Narrow palate; Oligodontia; Pachygyria; Pectus excavatum; Pericardial effusion; Pericardial lymphangiectasia; Periorbital edema; Pleural effusion; Pleural lymphangiectasia; Protein-losing enteropathy; Rectal prolapse; Recurrent respiratory infections; Reduced number of teeth; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short foot; Short palm; Small hand; Smooth philtrum; Spina bifida occulta; Splenomegaly; Talipes equinovarus; Thyroid lymphangiectasia; Umbilical hernia; Ventricular septal defect; Vesicoureteral reflux; Wide nasal bridge
CDKL5Xp22.1396.91%gene with protein product300203STK9Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Broad forehead; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Developmental regression; EEG abnormality; Epileptic encephalopathy; Fine hair; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hyperventilation; Hypsarrhythmia; Inability to walk; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, profound; Long philtrum; Microcephaly; Multifocal seizures; Myoclonus; Nephrolithiasis; Poor eye contact; Progressive microcephaly; Prominent forehead; Scoliosis; Seizures; Short foot; Short palm; Small hand; Spasticity; Stereotypy; Tapered finger; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance
CENPE4q2499.77%gene with protein product117143Abnormality of dental enamel; Absent earlobe; Autosomal recessive inheritance; Cachexia; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Cortical gyral simplification; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Hip dysplasia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Metaphyseal sclerosis; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Partial agenesis of the corpus callosum; Prematurely aged appearance; Prominent nose; Reduced number of teeth; Round face; Sandal gap; Seizures; Short foot; Short stature; Sloping forehead; Small hand; Sparse scalp hair
COL11A11p21.199.98%gene with protein product120280COLL6Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormal vitreous humor morphology; Abnormality of the dentition; Abnormality of the metaphysis; Abnormality of the pinna; Absent frontal sinuses; Amblyopia; Anterior rib cupping; Anteverted nares; Arachnodactyly; Arthralgia; Arthropathy; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bifid uvula; Brachycephaly; Brachydactyly; Broad ischia; Broad long bones; Broad ribs; Calcification of falx cerebri; Camptodactyly; Cataract; Cerebral calcification; Cleft palate; Clinodactyly of the 5th finger; Congenital cataract; Corneal opacity; Coxa valga; Depressed nasal bridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Ectopia lentis; Epicanthus; Epiphyseal dysplasia; Esotropia; Femoral bowing; Fibular hypoplasia; Flat face; Frontal bossing; Genu valgum; Glaucoma; Glossoptosis; Hearing abnormality; High myopia; Hydrops fetalis; Hypertelorism; Hypohidrosis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic fingernail; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic scapulae; Hypoplastic toenails; Hypotrichosis; Irregular distal femoral epiphysis; Irregular proximal tibial epiphyses; Irregular vertebral endplates; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Lens luxation; Long clavicles; Long fingers; Long philtrum; Low-set ears; Macrodontia of permanent maxillary central incisor; Malar flattening; Megalocornea; Meningeal calcification; Micrognathia; Micromelia; Midface retrusion; Myopia; Narrow chest; Narrow greater sacrosciatic notches; Narrow mouth; Omphalocele; Osteoarthritis; Patent foramen ovale; Pierre-Robin sequence; Platyspondyly; Posterior rib cupping; Posterior vertebral hypoplasia; Premature birth; Proptosis; Protuberant abdomen; Radial bowing; Respiratory insufficiency; Retinal detachment; Retinopathy; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Short stature; Small distal femoral epiphysis; Small hand; Small proximal tibial epiphyses; Spondyloepiphyseal dysplasia; Stillbirth; Thick lower lip vermilion; Thick upper lip vermilion; Thickened calvaria; Thin clavicles; Thin ribs; Thoracic hypoplasia; Ulnar bowing; Upper airway obstruction; Visual impairment; Vitreoretinal degeneration; Wide anterior fontanel; Wide nasal bridge; Wide tufts of distal phalanges; Widely patent coronal suture; Widely patent sagittal sutureEctodermal Dysplasia
COL3A12q32.2100%gene with protein product120180EDS4AAbnormal circle of Willis morphology; Abnormal oral frenulum morphology; Abnormality of brainstem morphology; Abnormality of the eyelashes; Abnormality of the urinary system; Absent earlobe; Alopecia of scalp; Aortic dissection; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Bladder diverticulum; Bruising susceptibility; Carious teeth; Cerebral berry aneurysm; Cigarette-paper scars; Cognitive impairment; Convex nasal ridge; Cryptorchidism; Dermal translucency; Dilatation of the cerebral artery; Epicanthus; Excessive wrinkled skin; Fine hair; Flat face; Foot acroosteolysis; Fragile skin; Gastrointestinal infarctions; Glaucoma; Global developmental delay; Hemiparesis; Hemoptysis; Hyperextensible skin; Hypermobility of distal interphalangeal joints; Hypertelorism; Hypertension; Hypokalemia; Inguinal hernia; Intellectual disability; Internal hemorrhage; Irregular hyperpigmentation; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Keratoconus; Lipoatrophy; Macule; Melanocytic nevus; Micrognathia; Mitral valve prolapse; Molluscoid pseudotumors; Osteoarthritis; Osteolytic defects of the phalanges of the hand; Pectus excavatum; Periodontitis; Peripheral arteriovenous fistula; Pneumothorax; Premature birth; Premature delivery because of cervical insufficiency or membrane fragility; Premature loss of teeth; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Seizures; Short foot; Short stature; Small hand; Soft skin; Spontaneous pneumothorax; Sprengel anomaly; Striae distensae; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Transient ischemic attack; Uterine prolapse; Varicose veins; Visual field defect
CTNND25p15.299.99%gene with protein product604275Cat cry; Downslanted palpebral fissures; EEG abnormality; Epicanthus; Focal seizures; Generalized seizures; Hand tremor; High palate; High pitched voice; Hypertelorism; Intellectual disability, severe; Intrauterine growth retardation; Low-set, posteriorly rotated ears; Microcephaly; Microretrognathia; Muscular hypotonia; Myoclonus; Round face; Scoliosis; Severe global developmental delay; Short neck; Short stature; Small hand; Wide nasal bridge
CUL4BXq2499.8%gene with protein product300304Abnormal hair pattern; Abnormality of earlobe; Abnormality of the pinna; Absent speech; Aggressive behavior; Blepharophimosis; Broad-based gait; Cachexia; Clinodactyly of the 5th finger; Coarse facial features; Cryptorchidism; Decreased testicular size; Delayed puberty; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Generalized hypotonia; High forehead; High palate; Hyperactivity; Hypogonadism; Hypoplasia of penis; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Joint laxity; Kyphosis; Macrocephaly; Macroglossia; Mandibular prognathia; Micropenis; Mood swings; Muscular hypotonia; Obesity; Open bite; Pes cavus; Prominent nose; Relative macrocephaly; Sandal gap; Scoliosis; Short foot; Short neck; Short palm; Short philtrum; Short stature; Small hand; Striae distensae; Synophrys; Thick lower lip vermilion; Tremor; Ventriculomegaly; Wide mouth; X-linked recessive inheritanceObesity
CUL4BXq2499.8%gene with protein product300304Abnormal hair pattern; Abnormality of earlobe; Abnormality of the pinna; Absent speech; Aggressive behavior; Blepharophimosis; Broad-based gait; Cachexia; Clinodactyly of the 5th finger; Coarse facial features; Cryptorchidism; Decreased testicular size; Delayed puberty; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Generalized hypotonia; High forehead; High palate; Hyperactivity; Hypogonadism; Hypoplasia of penis; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Joint laxity; Kyphosis; Macrocephaly; Macroglossia; Mandibular prognathia; Micropenis; Mood swings; Muscular hypotonia; Obesity; Open bite; Pes cavus; Prominent nose; Relative macrocephaly; Sandal gap; Scoliosis; Short foot; Short neck; Short palm; Short philtrum; Short stature; Small hand; Striae distensae; Synophrys; Thick lower lip vermilion; Tremor; Ventriculomegaly; Wide mouth; X-linked recessive inheritanceObesity
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
EVC4p16.299.83%gene with protein product604831Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC24p16.2100%gene with protein product607261Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FGD1Xp11.2299.73%gene with protein product300546FGDYAnteverted nares; Attention deficit hyperactivity disorder; Brachydactyly; Broad foot; Broad forehead; Broad palm; Broad philtrum; Camptodactyly of finger; Cervical spine hypermobility; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Cognitive impairment; Cryptorchidism; Curved linear dimple below the lower lip; Delayed puberty; Downslanted palpebral fissures; Everted lower lip vermilion; External ear malformation; Failure to thrive; Finger syndactyly; High anterior hairline; Hyperextensibility of the finger joints; Hyperextensible skin; Hypermetropia; Hypertelorism; Hypodontia; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Increased upper to lower segment ratio; Inguinal hernia; Intellectual disability; Joint hyperflexibility; Large earlobe; Long philtrum; Low-set, posteriorly rotated ears; Mild short stature; Pectus excavatum; Prominent umbilicus; Ptosis; Radial deviation of finger; Round face; Scoliosis; Shawl scrotum; Short foot; Short neck; Short nose; Short palm; Short stature; Single transverse palmar crease; Small hand; Strabismus; Syndactyly; Umbilical hernia; Wide nasal bridge; X-linked recessive inheritanceObesity
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
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
HDAC42q37.399.98%gene with protein product605314BDMRAnteverted nares; Bilateral single transverse palmar creases; Brachydactyly; Broad columella; Clinodactyly of the 5th finger; Deeply set eye; Depressed nasal bridge; Downturned corners of mouth; Eczema; Finger syndactyly; Frontal bossing; Global developmental delay; Highly arched eyebrow; Intellectual disability; Joint hyperflexibility; Microcephaly; Midface retrusion; Muscular hypotonia; Obesity; Round face; Seizures; Short foot; Short metacarpal; Short palm; Short stature; Small hand; Sparse and thin eyebrow; Sparse scalp hair; Supernumerary nipple; Thin vermilion border; Toe syndactyly; Umbilical hernia; Underdeveloped nasal alae; Upslanted palpebral fissure; Wide intermamillary distance
HDAC8Xq13.199.94%gene with protein product300269HDACL1, WTS, MRXS6Abnormal facial shape; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Broad nasal tip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Emotional lability; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; Gynecomastia; High palate; Highly arched eyebrow; Hypertonia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Malar prominence; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Pes cavus; Pes planus; Phthisis bulbi; Poor speech; Premature birth; Prominent supraorbital ridges; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Truncal obesity; Vesicoureteral reflux; Widely spaced teethObesity
HDAC8Xq13.199.94%gene with protein product300269HDACL1, WTS, MRXS6Abnormal facial shape; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Broad nasal tip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Emotional lability; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; Gynecomastia; High palate; Highly arched eyebrow; Hypertonia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Malar prominence; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Pes cavus; Pes planus; Phthisis bulbi; Poor speech; Premature birth; Prominent supraorbital ridges; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Truncal obesity; Vesicoureteral reflux; Widely spaced teethObesity
HERC215q13.199.37%gene with protein product605837Abdominal obesity; Aggressive behavior; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blue irides; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperactivity; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Mandibular prognathia; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palate; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Plagiocephaly; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Sandal gap; Scoliosis; Self-mutilation; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Strabismus; Thin upper lip vermilion; Unsteady gait; Ventriculomegaly
IPW15q11.2RNA, long non-codingXomeDxSlice is not appropriate.601491Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
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
KIF1BP10q22.1100%gene with protein product609367KIAA1279Aganglionic megacolon; Autosomal recessive inheritance; Blue sclerae; Bulbous nose; Cleft palate; Clinodactyly; Congenital onset; Corneal erosion; Corneal ulceration; Downslanted palpebral fissures; Everted lower lip vermilion; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Intellectual disability; Iris coloboma; Low-set ears; Megalocornea; Microcephaly; Muscular hypotonia; Pachygyria; Polymicrogyria; Prominent nasal bridge; Ptosis; Short neck; Short philtrum; Short stature; Small hand; Sparse hair; Specific learning disability; Synophrys; Tapered finger; Telecanthus; Thick eyebrow; Thick vermilion border; Wide intermamillary distance; Wide nasal bridge
KMT2A11q23.399.96%gene with protein product159555MLLAbnormally low-pitched voice; Aggressive behavior; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Blepharophimosis; Brachycephaly; Broad-based gait; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Flat face; Gastroesophageal reflux; Generalized hirsutism; Generalized hypotonia; High palate; Highly arched eyebrow; Hypertelorism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short middle phalanx of finger; Short neck; Short nose; Short stature; Short toe; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nose; Widely spaced teeth
LAS1LXq1297.62%gene with protein product300964Abnormal facial shape; Brachycephaly; Broad nasal tip; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Delayed speech and language development; Emotional lability; Global developmental delay; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Intellectual disability; Kyphosis; Malar prominence; Microcephaly; Micrognathia; Micropenis; Microtia; Misalignment of teeth; Muscular hypotonia; Pes cavus; Pes planus; Poor speech; Prominent supraorbital ridges; Retrognathia; Short ear; Short foot; Short stature; Small hand; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Truncal obesity; X-linked dominant inheritance; X-linked recessive inheritanceObesity
LAS1LXq1297.62%gene with protein product300964Abnormal facial shape; Brachycephaly; Broad nasal tip; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Delayed speech and language development; Emotional lability; Global developmental delay; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Intellectual disability; Kyphosis; Malar prominence; Microcephaly; Micrognathia; Micropenis; Microtia; Misalignment of teeth; Muscular hypotonia; Pes cavus; Pes planus; Poor speech; Prominent supraorbital ridges; Retrognathia; Short ear; Short foot; Short stature; Small hand; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Truncal obesity; X-linked dominant inheritance; X-linked recessive inheritanceObesity
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
LTBP311q13.1100%gene with protein product602090LTBP2Abnormal eyebrow morphology; Amelogenesis imperfecta; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Bulbous nose; Decreased nerve conduction velocity; Delayed skeletal maturation; Herniation of intervertebral nuclei; Hypertrichosis; Increased bone mineral density; Intervertebral space narrowing; Long eyelashes; Long philtrum; Microdontia; Mitral valve prolapse; Narrow mouth; Narrow vertebral interpedicular distance; Oligodontia; Platyspondyly; Round face; Selective tooth agenesis; Severe short stature; Short nose; Short palm; Short stature; Small hand; Thick lower lip vermilion; Widely spaced teethEctodermal Dysplasia
MAGEL215q11.2100%gene with protein product605283NDNL1Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Clinodactyly; Clitoral hypoplasia; Coarse facial features; Constipation; Cryptorchidism; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Esotropia; Failure to thrive in infancy; Feeding difficulties; Flexion contracture; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Micropenis; Motor delay; Myopia; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Neonatal hypotonia; Obesity; Oligomenorrhea; Open mouth; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; VentriculomegalyObesity
MAGEL215q11.2100%gene with protein product605283NDNL1Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Clinodactyly; Clitoral hypoplasia; Coarse facial features; Constipation; Cryptorchidism; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Esotropia; Failure to thrive in infancy; Feeding difficulties; Flexion contracture; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Micropenis; Motor delay; Myopia; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Neonatal hypotonia; Obesity; Oligomenorrhea; Open mouth; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; VentriculomegalyObesity
MBD52q23.2100%gene with protein product611472Abnormality of lower lip; Aggressive behavior; Astigmatism; Ataxia; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Bulbous nose; Clinodactyly of the 5th finger; Coarse facial features; Constipation; Cupped ear; Delayed speech and language development; Downturned corners of mouth; Esotropia; Everted lower lip vermilion; Febrile seizures; Feeding difficulties in infancy; Frontal bossing; Generalized hirsutism; Highly arched eyebrow; Hyperactivity; Hypermetropia; Intellectual disability; Intellectual disability, severe; Language impairment; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Microtia; Motor delay; Muscular hypotonia; Myopia; Open mouth; Paroxysmal bursts of laughter; Polyphagia; Postnatal growth retardation; Prominent nose; Protruding ear; Retrognathia; Sandal gap; Seizures; Self-injurious behavior; Short attention span; Short chin; Short foot; Short nose; Short palm; Short stature; Sleep disturbance; Small hand; Stereotypy; Synophrys; Tented upper lip vermilion; Thick eyebrow; Thin upper lip vermilion; Visual impairment; Wide mouth; Widely spaced teeth
MCTP215q26.299.7%gene with protein product6162972-3 toe cutaneous syndactyly; Abnormal aortic arch morphology; Abnormal cardiac septum morphology; Abnormality of the dentition; Attention deficit hyperactivity disorder; Autistic behavior; Bicuspid aortic valve; Bifid tongue; Blepharophimosis; Broad nasal tip; Cleft palate; Coarctation of aorta; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Decreased serum insulin-like growth factor 1; Delayed speech and language development; Failure to thrive; Finger clinodactyly; Flat occiput; Generalized joint laxity; Genu valgum; Global developmental delay; Hearing impairment; Hip dislocation; Hypertelorism; Hypospadias; Intrauterine growth retardation; Low 1-minute APGAR score; Low-set ears; Microcephaly; Micrognathia; Micropenis; Mitral stenosis; Postnatal growth retardation; Pulmonary hypoplasia; Seizures; Short distal phalanx of finger; Short philtrum; Short stature; Small for gestational age; Small hand; Small nail; Strabismus; Talipes equinovarus; Thin upper lip vermilion; Triangular face; Upslanted palpebral fissure
MKRN315q11.2100%gene with protein product603856ZNF127, D15S9Abdominal obesity; Accelerated skeletal maturation; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Premature thelarche; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; VentriculomegalyObesity
MKRN3-AS115q11-q13RNA, long non-codingXomeDxSlice is not appropriate.603857ZNF127AS, MKRN3AS, MKRN3-ASAbdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
NDN15q11.2100%gene with protein product602117Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
NGLY13p24.2100%gene with protein product610661Alacrima; Autosomal recessive inheritance; Fever; Generalized hypotonia; Pain; Polyneuropathy; Short foot; Small hand
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
NPAP115q11.2100%gene with protein product610922C15orf2Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
NSUN25p15.31100%gene with protein product610916MRT5Abnormality of female external genitalia; Abnormality of the antihelix; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blepharophimosis; Broad thumb; Clinodactyly of the 5th finger; Cryptorchidism; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dysarthria; Eczema; Epicanthus; Fine hair; Global developmental delay; Hearing impairment; Hyperreflexia; Hypertelorism; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Long face; Low anterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Short chin; Short foot; Short philtrum; Short stature; Sloping forehead; Small for gestational age; Small hand; Smooth philtrum; Sparse lateral eyebrow; Sparse scalp hair; Spasticity; Strabismus; Submucous cleft hard palate; Synophrys; Telecanthus; Thick eyebrow; Thick upper lip vermilion; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide anterior fontanel
ORC11p32.3100%gene with protein product601902ORC1LAbnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the ribs; Absent glenoid fossa; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Blepharophimosis; Breast hypoplasia; Breech presentation; Camptodactyly; Camptodactyly of finger; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat glenoid fossa; Frontal bossing; Gastroesophageal reflux; Genu valgum; Genu varum; Hearing impairment; Hemivertebrae; Heterogeneous; High palate; High, narrow palate; Hyperconvex nail; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Incomplete partition of the cochlea type II; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long eyelashes; Low-set ears; Mandibular aplasia; Microcephaly; Microdontia; Micrognathia; Micropenis; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Pectus carinatum; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Shawl scrotum; Short palm; Short palpebral fissure; Short ribs; Slender long bone; Small anterior fontanelle; Small for gestational age; Small hand; Strabismus; Talipes equinovarus; Thick lower lip vermilion; Thin ribs; Thin skin
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
PPM1D17q23.399.99%gene with protein product605100Anteverted nares; Anxiety; Attention deficit hyperactivity disorder; Autistic behavior; Autosomal dominant inheritance; Brachydactyly; Breast carcinoma; Broad forehead; Broad-based gait; Constipation; Delayed speech and language development; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperlordosis; Hypermetropia; Intellectual disability; Low-set ears; Obsessive-compulsive behavior; Posteriorly rotated ears; Short foot; Short stature; Small hand; Small nail; Strabismus; Thin upper lip vermilion; Vomiting; Wide mouth
PWAR115q11.2RNA, long non-codingXomeDxSlice is not appropriate.600161Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
PWRN115q11.2RNA, long non-codingXomeDxSlice is not appropriate.611215Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
RAD218q24.1199.96%gene with protein product606462Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Exostoses; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; Widely spaced teeth
RECQL48q24.399.97%gene with protein product603780Abnormal heart morphology; Abnormal vertebral morphology; Abnormality of the carpal bones; Abnormality of the kidney; Abnormality of the metacarpal bones; Abnormality of the nail; Absent eyebrow; Absent eyelashes; Absent radius; Absent thumb; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Anal atresia; Annular pancreas; Anomalous splenoportal venous system; Anteriorly placed anus; Aphalangy of the hands; Aplasia of metacarpal bones; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Autosomal recessive inheritance; Basal cell carcinoma; Bicoronal synostosis; Bifid uvula; Blepharophimosis; Bowing of the long bones; Brachyturricephaly; Brittle hair; Carpal bone aplasia; Carpal synostosis; Cataract; Choanal stenosis; Cleft palate; Concave nasal ridge; Conductive hearing impairment; Coronal craniosynostosis; Cryptorchidism; Cutaneous photosensitivity; Delayed eruption of teeth; Dermal atrophy; Diarrhea; Downslanted palpebral fissures; Epicanthus; Failure to thrive in infancy; Flat forehead; Forearm reduction defects; Frontal bossing; Glaucoma; Growth delay; Hand oligodactyly; Hearing impairment; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the radius; Hypoplasia of the ulna; Hypotrichosis; Increased number of teeth; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Juvenile zonular cataracts; Lambdoidal craniosynostosis; Large fontanelles; Limited elbow movement; Limited shoulder movement; Long face; Low-set, posteriorly rotated ears; Malabsorption; Mandibular prognathia; Microcornea; Microdontia; Micrognathia; Microphthalmia; Midface capillary hemangioma; Mottled pigmentation; Myopia; Nail dystrophy; Narrow mouth; Optic atrophy; Osteoporosis; Osteosarcoma; Palmoplantar keratoderma; Patellar hypoplasia; Perineal fistula; Poikiloderma; Polymicrogyria; Premature graying of hair; Prematurely aged appearance; Prominent nasal bridge; Proptosis; Rectovaginal fistula; Rib fusion; Sagittal craniosynostosis; Scoliosis; Seizures; Short chin; Short foot; Short humerus; Short nose; Short palm; Short stature; Short thumb; Skeletal dysplasia; Slender nose; Small hand; Sparse hair; Spina bifida occulta; Squamous cell carcinoma; Stiff interphalangeal joints; Strabismus; Talipes equinovarus; Telangiectasia; Ulnar bowing; Underdeveloped nasal alaeVACTERL Association
SEMA5A5p15.3199.99%gene with protein product609297SEMAFCat cry; Downslanted palpebral fissures; Epicanthus; High palate; High pitched voice; Hypertelorism; Intellectual disability, severe; Intrauterine growth retardation; Low-set, posteriorly rotated ears; Microcephaly; Microretrognathia; Muscular hypotonia; Round face; Scoliosis; Severe global developmental delay; Short neck; Short stature; Small hand; Wide nasal bridge
SETD53p25.3100%gene with protein product615743Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downturned corners of mouth; Drooling; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Scoliosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Upslanted palpebral fissure; Vesicoureteral reflux; Widely spaced teeth
SHROOM4Xp11.22100%gene with protein product300579Bruxism; Depressed nasal bridge; Epicanthus; Gastroesophageal reflux; Global developmental delay; Hip dislocation; Hirsutism; Hyperactivity; Hypertelorism; Intellectual disability, profound; Kyphosis; Microcephaly; Scoliosis; Short foot; Short stature; Small hand; Strabismus; Talipes equinovarus; X-linked inheritance
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
SLC6A171p13.3100%gene with protein product610299Aggressive behavior; Autosomal recessive inheritance; Blepharophimosis; Global developmental delay; Inability to walk; Intellectual disability; Intellectual disability, severe; Kinetic tremor; Long philtrum; Macrotia; Mandibular prognathia; Self-mutilation; Small hand; Waddling gait
SMC1AXp11.2299.82%gene with protein product300040SMC1L1Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Clinodactyly; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Narrow forehead; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Ventriculomegaly; Vesicoureteral reflux; Widely spaced teeth; X-linked dominant inheritance; X-linked recessive inheritance
SMC1AXp11.2299.82%gene with protein product300040SMC1L1Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Clinodactyly; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Narrow forehead; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Ventriculomegaly; Vesicoureteral reflux; Widely spaced teeth; X-linked dominant inheritance; X-linked recessive inheritance
SMC310q25.299.98%gene with protein product606062CSPG6Abnormal cardiac septum morphology; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Bulbous nose; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Thick eyebrow; Thick hair; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Widely spaced teeth
SMC310q25.299.98%gene with protein product606062CSPG6Abnormal cardiac septum morphology; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Bulbous nose; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Thick eyebrow; Thick hair; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Widely spaced teeth
SNORD115-115q11.2RNA, small nucleolarXomeDxSlice is not appropriate.609837Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
SNORD116-115q11.2RNA, small nucleolarXomeDxSlice is not appropriate.605436Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
SNRPN15q11.2100%gene with protein product182279PWCRAbdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autism; Childhood onset; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; EEG abnormality; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Heterogeneous; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired ability to form peer relationships; Impaired pain sensation; Impaired use of nonverbal behaviors; Increased serum serotonin; Infertility; Inflexible adherence to routines or rituals; Intellectual disability; Kyphosis; Lack of spontaneous play; Micropenis; Motor delay; Multifactorial inheritance; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Restrictive behavior; Scoliosis; Seizures; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Stereotypy; Thin upper lip vermilion; Ventriculomegaly
SON21q22.11100%gene with protein product182465C21orf50Abnormality of the dentition; Abnormality of the ribs; Arachnoid cyst; Autosomal dominant inheritance; Cerebellar hypoplasia; Cleft palate; Cortical visual impairment; Craniosynostosis; Deeply set eye; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Facial asymmetry; Failure to thrive; Feeding difficulties; Flexion contracture; Frontal bossing; Generalized hypotonia; Global developmental delay; Hemivertebrae; High palate; Horseshoe kidney; Hypermetropia; Hypoplasia of the corpus callosum; Intellectual disability; Joint hypermobility; Kyphosis; Low-set ears; Narrow mouth; Optic atrophy; Scoliosis; Short foot; Short philtrum; Short stature; Small hand; Strabismus; Thin upper lip vermilion; Ventriculomegaly; Wide nasal bridge
TBCE1q42.3100%gene with protein product604934KCS, HRDAbnormality of dental enamel; Anemia; Ataxia; Autosomal recessive inheritance; Bifid uvula; Birth length less than 3rd percentile; Calvarial osteosclerosis; Carious teeth; Cerebellar atrophy; Congenital hypoparathyroidism; Convex nasal ridge; Cortical thickening of long bone diaphyses; Cryptorchidism; Decreased skull ossification; Deeply set eye; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed myelination; Delayed skeletal maturation; Depressed nasal bridge; Dysarthria; Encephalopathy; External ear malformation; Foot dorsiflexor weakness; Frontal bossing; Full cheeks; Global developmental delay; Growth hormone deficiency; High forehead; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypomagnesemia; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long clavicles; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Optic atrophy; Patchy osteosclerosis; Peripheral axonal neuropathy; Posteriorly rotated ears; Postnatal growth retardation; Progressive; Prominent forehead; Proportionate short stature; Recurrent bacterial infections; Recurrent respiratory infections; Scoliosis; Seizures; Severe intrauterine growth retardation; Severe muscular hypotonia; Short foot; Short palm; Short stature; Slender long bone; Small hand; Spastic tetraplegia; Spinal muscular atrophy; Stenosis of the medullary cavity of the long bones; Tetany; Thin clavicles; Thin long bone diaphyses; Thin ribs; Thin vermilion border; Ventriculomegaly
TBCE1q42.3100%gene with protein product604934KCS, HRDAbnormality of dental enamel; Anemia; Ataxia; Autosomal recessive inheritance; Bifid uvula; Birth length less than 3rd percentile; Calvarial osteosclerosis; Carious teeth; Cerebellar atrophy; Congenital hypoparathyroidism; Convex nasal ridge; Cortical thickening of long bone diaphyses; Cryptorchidism; Decreased skull ossification; Deeply set eye; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed myelination; Delayed skeletal maturation; Depressed nasal bridge; Dysarthria; Encephalopathy; External ear malformation; Foot dorsiflexor weakness; Frontal bossing; Full cheeks; Global developmental delay; Growth hormone deficiency; High forehead; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypomagnesemia; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long clavicles; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Optic atrophy; Patchy osteosclerosis; Peripheral axonal neuropathy; Posteriorly rotated ears; Postnatal growth retardation; Progressive; Prominent forehead; Proportionate short stature; Recurrent bacterial infections; Recurrent respiratory infections; Scoliosis; Seizures; Severe intrauterine growth retardation; Severe muscular hypotonia; Short foot; Short palm; Short stature; Slender long bone; Small hand; Spastic tetraplegia; Spinal muscular atrophy; Stenosis of the medullary cavity of the long bones; Tetany; Thin clavicles; Thin long bone diaphyses; Thin ribs; Thin vermilion border; Ventriculomegaly
TBCE1q42.3100%gene with protein product604934KCS, HRDAbnormality of dental enamel; Anemia; Ataxia; Autosomal recessive inheritance; Bifid uvula; Birth length less than 3rd percentile; Calvarial osteosclerosis; Carious teeth; Cerebellar atrophy; Congenital hypoparathyroidism; Convex nasal ridge; Cortical thickening of long bone diaphyses; Cryptorchidism; Decreased skull ossification; Deeply set eye; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed myelination; Delayed skeletal maturation; Depressed nasal bridge; Dysarthria; Encephalopathy; External ear malformation; Foot dorsiflexor weakness; Frontal bossing; Full cheeks; Global developmental delay; Growth hormone deficiency; High forehead; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypomagnesemia; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long clavicles; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Optic atrophy; Patchy osteosclerosis; Peripheral axonal neuropathy; Posteriorly rotated ears; Postnatal growth retardation; Progressive; Prominent forehead; Proportionate short stature; Recurrent bacterial infections; Recurrent respiratory infections; Scoliosis; Seizures; Severe intrauterine growth retardation; Severe muscular hypotonia; Short foot; Short palm; Short stature; Slender long bone; Small hand; Spastic tetraplegia; Spinal muscular atrophy; Stenosis of the medullary cavity of the long bones; Tetany; Thin clavicles; Thin long bone diaphyses; Thin ribs; Thin vermilion border; Ventriculomegaly
TBCE1q42.3100%gene with protein product604934KCS, HRDAbnormality of dental enamel; Anemia; Ataxia; Autosomal recessive inheritance; Bifid uvula; Birth length less than 3rd percentile; Calvarial osteosclerosis; Carious teeth; Cerebellar atrophy; Congenital hypoparathyroidism; Convex nasal ridge; Cortical thickening of long bone diaphyses; Cryptorchidism; Decreased skull ossification; Deeply set eye; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed myelination; Delayed skeletal maturation; Depressed nasal bridge; Dysarthria; Encephalopathy; External ear malformation; Foot dorsiflexor weakness; Frontal bossing; Full cheeks; Global developmental delay; Growth hormone deficiency; High forehead; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypomagnesemia; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long clavicles; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Optic atrophy; Patchy osteosclerosis; Peripheral axonal neuropathy; Posteriorly rotated ears; Postnatal growth retardation; Progressive; Prominent forehead; Proportionate short stature; Recurrent bacterial infections; Recurrent respiratory infections; Scoliosis; Seizures; Severe intrauterine growth retardation; Severe muscular hypotonia; Short foot; Short palm; Short stature; Slender long bone; Small hand; Spastic tetraplegia; Spinal muscular atrophy; Stenosis of the medullary cavity of the long bones; Tetany; Thin clavicles; Thin long bone diaphyses; Thin ribs; Thin vermilion border; Ventriculomegaly
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
TRPV412q24.11100%gene with protein product605427Abducens palsy; Abnormal cortical bone morphology; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormal metaphyseal vascular invasion; Abnormality of the eye; Abnormality of the face; Abnormality of the foot; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the rib cage; Abnormality of the ribs; Absent primary metaphyseal spongiosa; Amyoplasia; Anisospondyly; Areflexia; Arthrogryposis multiplex congenita; Arthropathy; Autosomal dominant inheritance; Barrel-shaped chest; Brachydactyly; Brachytelomesophalangy; Broad-based gait; Cachexia; Carpal bone hypoplasia; Caudal appendage; Childhood-onset short-trunk short stature; Clinodactyly; Coxa vara; Decreased distal sensory nerve action potential; Decreased fetal movement; Delayed skeletal maturation; Depressed nasal bridge; Diaphragmatic weakness; Disproportionate short-trunk short stature; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Dumbbell-shaped metaphyses; Elbow flexion contracture; Elevated serum creatine phosphokinase; Enlarged joints; Epiphyseal dysplasia; Facial palsy; Flared femoral metaphysis; Flared humeral metaphysis; Flared metaphysis; Flat acetabular roof; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Genu valgum; Gowers sign; Halberd-shaped pelvis; Hammertoe; Hand muscle atrophy; High forehead; Hip contracture; Hip dysplasia; Hyperlordosis; Hypermetropia; Hyperplasia of the femoral trochanters; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hyporeflexia; Incomplete penetrance; Increased vertebral height; Intercostal muscle weakness; Irregular acetabular roof; Irregular, rachitic-like metaphyses; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long coccyx; Long thorax; Metatarsus adductus; Micromelia; Motor delay; Motor polyneuropathy; Muscle fiber splitting; Muscular hypotonia; Narrow chest; Nonprogressive; Nonprogressive muscular atrophy; Obstructive sleep apnea; Oculomotor nerve palsy; Onset; Osteoarthritis of the small joints of the hand; Pectus carinatum; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Platyspondyly; Progressive distal muscle weakness; Progressive distal muscular atrophy; Proximal femoral metaphyseal irregularity; Proximal lower limb amyotrophy; Radial deviation of finger; Relatively short spine; Respiratory failure; Rough bone trabeculation; Scapular muscle atrophy; Scapular winging; Scapuloperoneal amyotrophy; Scoliosis; Sensorineural hearing impairment; Sensory neuropathy; Severe carpal ossification delay; Severe short stature; Short distal phalanx of finger; Short distal phalanx of toe; Short femoral neck; Short finger; Short middle phalanx of finger; Short middle phalanx of toe; Short neck; Short stature; Short thorax; Shortening of all distal phalanges of the toes; Shortening of all middle phalanges of the toes; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small hand; Spinal cord compression; Spinal muscular atrophy; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stridor; Talipes equinovarus; Torticollis; Urinary incontinence; Urinary urgency; Variable expressivity; Vocal cord paresis; Waddling gait
USP9XXp11.499.99%gene with protein product300072Abnormality of the dentition; Astigmatism; Atrial septal defect; Brachycephaly; Broad thumb; Bulbous nose; Cataract; Cleft palate; Delayed speech and language development; Depressed nasal bridge; Facial asymmetry; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hip dislocation; Hydronephrosis; Hypermetropia; Hypotelorism; Intellectual disability; Joint laxity; Long philtrum; Low-set ears; Myopia; Narrow forehead; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Posteriorly rotated ears; Prominent forehead; Prominent nose; Renal dysplasia; Respiratory distress; Short foot; Short palpebral fissure; Short stature; Small hand; Smooth philtrum; Strabismus; Tapered finger; Wide nasal bridge; X-linked dominant inheritance; X-linked recessive inheritance
WDR8117p13.3100%gene with protein product614218Abnormality of the neck; Aplasia of the inferior half of the cerebellar vermis; Ataxia; Atrophy of the dentate nucleus; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Coarse facial features; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait disturbance; Global brain atrophy; Global developmental delay; Hirsutism; Hyperreflexia; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Muscular hypotonia; Seizures; Short foot; Short palm; Short stature; Skeletal muscle atrophy; Small hand; Strabismus; Thoracic kyphosis; Thoracic scoliosis; Tremor; Truncal ataxia
WRN8p1299.96%gene with protein product604611RECQL2, RECQ3Abnormal hair whorl; Abnormality of retinal pigmentation; Abnormality of the hair; Abnormality of the thorax; Abnormality of the voice; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the testes; Atherosclerosis; Autosomal recessive inheritance; Cataract; Chondrocalcinosis; Congestive heart failure; Convex nasal ridge; Decreased fertility; Diabetes mellitus; Hyperkeratosis; Hypogonadism; Increased bone mineral density; Insulin resistance; Lack of skin elasticity; Lipoatrophy; Meningioma; Myocardial infarction; Narrow face; Osteoporosis; Osteosarcoma; Pili torti; Premature arteriosclerosis; Premature graying of hair; Progeroid facial appearance; Pulmonary artery stenosis; Retinal degeneration; Rocker bottom foot; Short stature; Skeletal muscle atrophy; Skin ulcer; Slender build; Small hand; Sparse scalp hair; Subcutaneous calcification; Telangiectasia of the skin; Type II diabetes mellitus; White forelock
XYLT116p12.3100%gene with protein product608124Abnormality of the eyelashes; Abnormality of the metaphysis; Accelerated skeletal maturation; Advanced ossification of carpal bones; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Autosomal recessive inheritance; Bell-shaped thorax; Blue sclerae; Camptodactyly of finger; Clinodactyly of the 5th finger; Coxa valga; Coxa vara; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow dislocation; Epiphyseal dysplasia; Flat face; Genu recurvatum; Glaucoma; Hypotrichosis; Intellectual disability; Joint hyperflexibility; Joint laxity; Long philtrum; Low-set, posteriorly rotated ears; Metaphyseal widening; Patellar dislocation; Proptosis; Radioulnar synostosis; Relative macrocephaly; Round face; Scoliosis; Severe short stature; Short clavicles; Short long bone; Short metacarpal; Short neck; Short phalanx of finger; Short stature; Small hand; Ventricular septal defectMuscular dystropy-dystroglycanopathy (Walker-Warburg); Obesity
ZDHHC15Xq13.3100%gene with protein product300576Abnormal facial shape; Absent speech; Cubitus valgus; Epicanthus; Global developmental delay; High palate; Intellectual disability, mild; Low posterior hairline; Macrodontia; Obesity; Seizures; Severe muscular hypotonia; Short 5th finger; Short foot; Short nose; Small hand; X-linked dominant inheritance; X-linked inheritance


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