XomeDxSlice Tool

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

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Phenotypes
Broad palm

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADAMTS1019p13.2100%gene with protein product608990Abnormality of dental morphology; Aortic valve stenosis; Autosomal recessive inheritance; Blindness; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Cataract; Depressed nasal bridge; Ectopia lentis; Glaucoma; High myopia; Hypoplasia of the maxilla; Joint stiffness; Limitation of joint mobility; Lumbar hyperlordosis; Microspherophakia; Misalignment of teeth; Mitral regurgitation; Narrow palate; Patent ductus arteriosus; Proportionate short stature; Pulmonic stenosis; Scoliosis; Shallow anterior chamber; Shallow orbits; Short stature; Short thumb; Spinal canal stenosis; Thickened skin; Thin bony cortex; Ventricular septal defect
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
BCORXp11.4100%gene with protein product3004852-3 toe syndactyly; Abnormal cardiac septum morphology; Abnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Aortic valve stenosis; Asymmetry of the ears; Atrial septal defect; Bicuspid aortic valve; Bifid nasal tip; Bifid uvula; Blepharophimosis; Blindness; Broad nasal tip; Broad palm; Camptodactyly; Camptodactyly of finger; Cataract; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Complete duplication of thumb phalanx; Congenital cataract; Cryptorchidism; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Down-sloping shoulders; Exotropia; External ear malformation; Finger syndactyly; Flexion contracture of the 2nd toe; Flexion contracture of the 4th toe; Fused teeth; Generalized hypotonia; Glaucoma; Growth delay; Hammertoe; Hearing impairment; High, narrow palate; Hydronephrosis; Hydroureter; Hypospadias; Increased number of teeth; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Laterally curved eyebrow; Long face; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Microcephaly; Microcornea; Microphthalmia; Misalignment of teeth; Mitral valve prolapse; Motor delay; Narrow chest; Narrow face; Oligodontia; Optic nerve coloboma; Oral cleft; Overfolded helix; Patent ductus arteriosus; Pectus excavatum; Persistence of primary teeth; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonic stenosis; Pyloric stenosis; Radial deviation of finger; Radioulnar synostosis; Rectal prolapse; Recurrent otitis media; Remnants of the hyaloid vascular system; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Sensorineural hearing impairment; Septate vagina; Short clavicles; Short stature; Spastic diplegia; Submucous cleft hard palate; Syndactyly; Thick eyebrow; Ventricular septal defect; Visual loss; Webbed neck; X-linked dominant inheritance; X-linked inheritanceDisorders of Sex Development
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
DYM18q21.1100%gene with protein product607461Abnormality of epiphysis morphology; Abnormality of the ilium; Abnormality of the metaphysis; Abnormality of the wrist; Atlantoaxial instability; Autosomal recessive inheritance; Barrel-shaped chest; Beaking of vertebral bodies; Broad foot; Broad palm; Camptodactyly; Carpal bone hypoplasia; Coarse facial features; Cone-shaped epiphyses of the phalanges of the hand; Deformed sella turcica; Delayed femoral head ossification; Disproportionate short-trunk short stature; Dolichocephaly; Enlargement of the costochondral junction; Flat acetabular roof; Flat glenoid fossa; Genu valgum; Genu varum; Global developmental delay; Hip dislocation; Hyperlordosis; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic facial bones; Hypoplastic iliac wing; Hypoplastic scapulae; Iliac crest serration; Intellectual disability; Irregular epiphyses; Joint stiffness; Kyphosis; Lumbar hyperlordosis; Mandibular prognathia; Metaphyseal irregularity; Microcephaly; Micromelia; Multicentric femoral head ossification; Multicentric ossification of proximal femoral epiphyses; Multicentric ossification of proximal humeral epiphyses; Narrow greater sacrosciatic notches; Neurological speech impairment; Pectus carinatum; Platyspondyly; Postnatal growth retardation; Prominent sternum; Rhizomelia; Scoliosis; Severe global developmental delay; Shield chest; Short metacarpal; Short metatarsal; Short neck; Short phalanx of finger; Short thorax; Skeletal dysplasia; Sloping forehead; Spinal canal stenosis; Thickened calvaria; Thoracic kyphosis; Waddling gait; Wide pubic symphysis
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
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
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FHL1Xq26.3100%gene with protein product300163Abnormality of the voice; Adult onset; Areflexia; Arrhythmia; Back pain; Brachyturricephaly; Broad nail; Broad palm; Camptodactyly of toe; Cardiomyopathy; Congenital hip dislocation; Dislocation of toes; Downslanted palpebral fissures; Elevated serum creatine phosphokinase; Everted lower lip vermilion; Flexion contracture; Foot dorsiflexor weakness; Frequent falls; Hallux valgus; Hyperlordosis; Hypertrophic cardiomyopathy; Hyporeflexia; Increased variability in muscle fiber diameter; Joint contracture of the hand; Kyphosis; Limited elbow movement; Low-set ears; Lower limb muscle weakness; Marked muscular hypertrophy; Mitral regurgitation; Myofibrillar myopathy; Posteriorly rotated ears; Progressive; Progressive pes cavus; Prominent supraorbital ridges; Proximal muscle weakness; Pugilistic facies; Rapidly progressive; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scapular winging; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Short neck; Skeletal muscle atrophy; Spinal rigidity; Steppage gait; Synophrys; Ventricular hypertrophy; Waddling gait; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritanceRhabdomyolysis
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
IFT803q25.3394.79%gene with protein product611177WDR56Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Broad palm; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Mesomelia; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short foot; Short metacarpal; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
IHH2q35100%gene with protein product600726Absent distal interphalangeal creases; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad metacarpal epiphyses; Broad nail; Broad palm; Clinodactyly of the 5th finger; Cone-shaped capital femoral epiphysis; Cone-shaped epiphysis; Cone-shaped epiphysis of the 1st metacarpal; Cone-shaped metacarpal epiphyses; Coxa vara; Cupped ribs; Delayed ossification of carpal bones; Delayed skeletal maturation; Disproportionate short stature; Disproportionate short-limb short stature; Distal symphalangism of hands; Dysplasia of the femoral head; Enlargement of the distal femoral epiphysis; Fibular overgrowth; Flared iliac wings; Flattened metatarsal heads; Genu varum; Heterogeneous; Hyperlordosis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic iliac wing; Lumbar hyperlordosis; Micromelia; Narrow chest; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Proportionate shortening of all digits; Radial deviation of the 2nd finger; Radial deviation of the 3rd finger; Radial deviation of the 4th finger; Relative macrocephaly; Scoliosis; Short distal phalanx of finger; Short femoral neck; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short middle phalanx of finger; Short palm; Short proximal phalanx of finger; Short proximal phalanx of hallux; Short proximal phalanx of thumb; Short ribs; Short stature; Short thumb; Short tibia; Skeletal dysplasia; Slender metacarpals; Small nail; Thin proximal phalanges with broad epiphyses of the hand
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
OFD1Xp22.299.66%gene with protein product300170CXorf5, RP23Abnormal cortical gyration; Abnormal electroretinogram; Abnormal heart morphology; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the cerebellum; Abnormality of the retinal vasculature; Abnormality of the rib cage; Abnormality of the testis; Abnormality of toe; Accessory oral frenulum; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Alveolar ridge overgrowth; Anteverted nares; Arachnoid cyst; Ataxia; Atypical scarring of skin; Bifid tongue; Blindness; Brachydactyly; Broad alveolar ridges; Broad palm; Carious teeth; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital onset; Deep philtrum; Downslanted palpebral fissures; Enlarged cisterna magna; Epicanthus; Facial asymmetry; Facial capillary hemangioma; Feeding difficulties in infancy; Finger syndactyly; Foot polydactyly; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Gray matter heterotopias; Growth delay; Hamartoma of tongue; Hearing impairment; Hepatic cysts; Hepatic fibrosis; High palate; Hirsutism; Hydrocephalus; Hyperactive deep tendon reflexes; Hyperinsulinemia; Hypertelorism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of dental enamel; Hypoplasia of penis; Hypothalamic hamartoma; Increased number of teeth; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Keratoconus; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip; Microcephaly; Micropenis; Microretrognathia; Milia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovarian cyst; Photophobia; Pneumonia; Polycystic kidney dysplasia; Polydactyly; Porencephalic cyst; Postaxial polydactyly; Posteriorly rotated ears; Progressive night blindness; Proteinuria; Radial deviation of finger; Recurrent infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Reduced bone mineral density; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Short finger; Short neck; Short nose; Short stature; Short toe; Single transverse palmar crease; Small nail; Sparse hair; Syndactyly; Talipes equinovarus; Tapered finger; Telecanthus; Thick vermilion border; Thickened nuchal skin fold; Thin upper lip vermilion; Tongue nodules; U-Shaped upper lip vermilion; Underdeveloped nasal alae; Wide intermamillary distance; Wide mouth; Wide nasal bridge; Wide nose; X-linked dominant inheritance; X-linked recessive inheritanceHeterotaxy ; Obesity
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
PTH1R3p21.3199.98%gene with protein product168468PTHR, PTHR1Abnormal trabecular bone morphology; Abnormality of epiphysis morphology; Abnormality of the acetabulum; Abnormality of the fingertips; Abnormality of the metaphysis; Absence of the sacrum; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplastic clavicles; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Brachycephaly; Broad clavicles; Broad foot; Broad palm; Cataract; Choanal atresia; Choanal stenosis; Clinodactyly of the 5th finger; Clubbing of fingers; Cubitus valgus; Delayed epiphyseal ossification; Depressed nasal bridge; Distal shortening of limbs; Elevated alkaline phosphatase; Epiphyseal dysplasia; Failure of eruption of permanent teeth; Fibular hypoplasia; Flared metaphysis; Generalized osteosclerosis; Hearing impairment; High iliac wings; Hip contracture; Hydrops fetalis; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypertelorism; Hypodontia; Hypoparathyroidism; Hypophosphatemia; Increased bone mineral density; Joint stiffness; Knee flexion contracture; Laryngeal calcification; Lethal skeletal dysplasia; Limited elbow flexion; Limited hip movement; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Micrognathia; Micromelia; Misalignment of teeth; Multiple enchondromatosis; Narrow chest; Narrow pelvis bone; Natal tooth; Neonatal short-limb short stature; Nephrocalcinosis; Osteolysis; Osteopenia; Pathologic fracture; Persistence of primary teeth; Platyspondyly; Polyhydramnios; Premature birth; Prominent supraorbital arches in adult; Proptosis; Protruding tongue; Protuberant abdomen; Pulmonary hypoplasia; Rhizomelia; Severe short stature; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short toe; Skeletal dysplasia; Squared iliac bones; Stillbirth; Subcutaneous nodule; Synostosis of joints; Telecanthus; Thick skull base; Thin bony cortex; Visceral angiomatosis; Waddling gaitEctodermal Dysplasia
RAI117p11.299.96%gene with protein product607642SMCRAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal renal morphology; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome segregation; Abnormality of the dentition; Abnormality of the immune system; Abnormality of the larynx; Abnormality of the outer ear; Abnormality of the thyroid gland; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Broad face; Broad forehead; Broad palm; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Dysphasia; Echolalia; EEG abnormality; Everted upper lip vermilion; Expressive language delay; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Head-banging; Hearing impairment; High hypermetropia; Hoarse voice; Hyperactivity; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Intellectual disability, mild; Large face; Malar flattening; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Morphological abnormality of the middle ear; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Oral-pharyngeal dysphagia; Pes planus; Poor fine motor coordination; Scoliosis; Seizures; Self-injurious behavior; Self-mutilation; Short nose; Short palm; Short philtrum; Short stature; Sleep apnea; Sleep disturbance; Speech apraxia; Sporadic; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Triangular face; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventriculomegaly; Wide nasal bridgeAutoimmune Disorders ; Ectodermal Dysplasia ; Obesity
RPS6KA3Xp22.1298.52%gene with protein product300075MRX19, CLSAbnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of dental morphology; Anteverted nares; Bifid sternum; Brachydactyly; Broad finger; Broad nasal tip; Broad palm; Coarse facial features; Coarse hair; Coxa valga; Craniofacial hyperostosis; Cutis laxa; Cutis marmorata; Decreased body weight; Delayed closure of the anterior fontanelle; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Drumstick terminal phalanges; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Generalized hypotonia; High palate; Highly arched eyebrow; Hyperconvex fingernails; Hyperextensibility of the finger joints; Hypertelorism; Hypodontia; Hypoplasia of the maxilla; Hypoplastic fingernail; Inguinal hernia; Intellectual disability; Joint hyperflexibility; Kyphoscoliosis; Kyphosis; Large hands; Long foot; Lumbar kyphosis; Mandibular prognathia; Microcephaly; Mitral regurgitation; Motor delay; Muscular hypotonia; Narrow iliac wings; Narrow palate; Neurological speech impairment; Open mouth; Pectus carinatum; Pectus excavatum; Pes planus; Progressive spasticity; Prominent forehead; Prominent supraorbital ridges; Protruding ear; Pseudoepiphyses of the metacarpals; Rectal prolapse; Redundant skin; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short distal phalanx of finger; Short metacarpal; Short stature; Single transverse palmar crease; Sporadic; Tapered finger; Telecanthus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick nasal septum; Thickened calvaria; Uterine prolapse; Ventriculomegaly; Wide mouth; Wide nose; Widely spaced teeth; X-linked dominant inheritance
TBL1XR13q26.32100%gene with protein product608628Abnormal peripheral nervous system morphology; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brachycephaly; Brachydactyly; Broad face; Broad foot; Broad hallux; Broad palm; Broad philtrum; Broad thumb; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Decreased body weight; Deep palmar crease; Deep plantar creases; Deeply set eye; Delayed speech and language development; Dysarthria; Enuresis nocturna; Everted lower lip vermilion; Feeding difficulties in infancy; Full cheeks; Global developmental delay; High anterior hairline; High forehead; High palate; Hyperreflexia; Hypertelorism; Hypoplastic areola; Intellectual disability; Large fleshy ears; Long upper lip; Malar flattening; Microcephaly; Midface retrusion; Narrow face; Nasal speech; Pectus carinatum; Pectus excavatum; Pes planus; Phenotypic variability; Posteriorly rotated ears; Progressive spastic paraplegia; Scissor gait; Short finger; Short foot; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Smooth philtrum; Telecanthus; Unilateral narrow palpebral fissure; Wide intermamillary distance; Wide nose; Widely spaced teeth


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