XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Enlarged thorax

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
A2ML112p13.31100%gene with protein product610627CPAMD9Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Coarse hair; Cryptorchidism; Cystic hygroma; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Feeding difficulties in infancy; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Midface retrusion; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Proptosis; Ptosis; Pulmonary artery stenosis; Scoliosis; Short stature; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Webbed neck; Wide intermamillary distance
BMPER7p14.3100%gene with protein product608699Abnormal liver lobulation; Abnormal vertebral segmentation and fusion; Absent in utero ossification of vertebral bodies; Absent in utero rib ossification; Absent or minimally ossified vertebral bodies; Autosomal recessive inheritance; Bell-shaped thorax; Cleft palate; Cystic renal dysplasia; Depressed nasal bridge; Depressed nasal ridge; Disproportionate short-trunk short stature; Enlarged kidney; Enlarged thorax; Epicanthus; Generalized hypotonia; Global developmental delay; Hammertoe; Hypertelorism; Hypoplastic fingernail; Increased nuchal translucency; Inguinal hernia; Intrauterine growth retardation; Large fontanelles; Low-set ears; Lumbosacral meningocele; Micrognathia; Missing ribs; Multiple renal cysts; Muscular hypotonia; Myelomeningocele; Narrow pelvis bone; Nephroblastomatosis; Nephrogenic rest; Oligohydramnios; Polymicrogyria; Protuberant abdomen; Pulmonary hypoplasia; Respiratory distress; Respiratory insufficiency; Short neck; Short nose; Short thorax; Talipes equinovarus; Thoracic hypoplasia; Tracheomalacia; Unossified sacrum; Vertebral segmentation defect; Webbed neck
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
CCDC819q13.32100%gene with protein product614145Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Delayed eruption of teeth; Delayed skeletal maturation; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Hip dysplasia; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Long philtrum; Malar flattening; Micromelia; Midface retrusion; Pointed chin; Protruding ear; Rocker bottom foot; Scapular winging; Short neck; Short stature; Short thorax; Slender long bone; Small for gestational age; Thick eyebrow; Thin ribs; Triangular face
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
CUL76p21.1100%gene with protein product609577KIAA0076Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Clinodactyly of the 5th finger; Decreased testicular size; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Hip dislocation; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypospadias; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Long philtrum; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Neonatal respiratory distress; Pectus excavatum; Pes planus; Pointed chin; Postnatal growth retardation; Protruding ear; Rocker bottom foot; Scapular winging; Short 5th finger; Short neck; Short ribs; Short stature; Short thorax; Slender long bone; Small for gestational age; Spina bifida occulta; Thick eyebrow; Thick lower lip vermilion; Thin ribs; Triangular face
EIF2AK32p11.299.85%gene with protein product604032Abnormal heart morphology; Abnormality of the metaphysis; Acute hepatic failure; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Carpal bone hypoplasia; Chronic hepatic failure; Cone-shaped epiphyses of the phalanges of the hand; Coxa valga; Death in infancy; Dehydration; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Enlarged thorax; Epicanthus; Epiphyseal dysplasia; Flattened epiphysis; Gait disturbance; Genu valgum; Global developmental delay; Glycosuria; Hepatomegaly; High forehead; High palate; Hip dislocation; Hip subluxation; Hyperglycemia; Hyperlordosis; Hypermetropia; Hypertelorism; Hypertonia; Hyperuricemia; Hypoplasia of the odontoid process; Infantile onset; Insulin-resistant diabetes mellitus; Intellectual disability; Intracerebral periventricular calcifications; Irregular carpal bones; Irregular tarsal ossification; Irregular vertebral endplates; Ivory epiphyses of the phalanges of the hand; Ivory epiphyses of the toes; Ketoacidosis; Microcephaly; Microdontia; Motor delay; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow iliac wings; Neutropenia; Osteopenia; Osteoporosis; Platyspondyly; Preauricular pit; Reduced pancreatic beta cells; Renal insufficiency; Renal tubular dysfunction; Short stature; Short thorax; Shortening of all middle phalanges of the fingers; Small epiphyses; Steatorrhea; Thin vermilion border; Transient neonatal diabetes mellitus; Triangular face; Type I diabetes mellitus; Upslanted palpebral fissure; Weight loss
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
GATA48p23.1100%gene with protein product600576Abnormal nasal morphology; Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Azoospermia; Biparietal narrowing; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dolichocephaly; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged thorax; Epicanthus; External ear malformation; Female external genitalia in individual with 46,XY karyotype; Global developmental delay; Gonadal dysgenesis; Gynecomastia; High forehead; High palate; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Low-set ears; Male infertility; Microcephaly; Micrognathia; Micropenis; Microphallus; Osteoporosis; Perineal hypospadias; Poor speech; Preauricular pit; Primary amenorrhea; Primum atrial septal defect; Proptosis; Pulmonary artery stenosis; Seizures; Short neck; Short nose; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tapered finger; Testicular dysgenesis; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges; Urogenital sinus anomaly; Vanishing testis; Ventricular septal defect; Weight loss; Wide intermamillary distance; Wide nasal bridgeDisorders of Sex Development; Heterotaxy
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KIF2216p11.2100%gene with protein product603213KNSL4Abnormal calcification of the carpal bones; Abnormality of the patella; Abnormality of the sacrum; Anteverted nares; Autosomal dominant inheritance; Broad distal phalanx of finger; Carpal bone hypoplasia; Caudal interpedicular narrowing; Congenital hip dislocation; Delayed patellar ossification; Delayed phalangeal epiphyseal ossification; Depressed nasal bridge; Dislocated radial head; Enlarged thorax; Flared metaphysis; Flat capital femoral epiphysis; Frontal bossing; Generalized hypotonia; Genu valgum; Global developmental delay; Hip dislocation; Hypoplasia of the capital femoral epiphysis; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Joint laxity; Kyphosis; Large joint dislocations; Laryngeal stenosis; Laryngotracheomalacia; Long distal phalanx of finger; Long proximal phalanx of finger; Macrocephaly; Malar flattening; Metaphyseal irregularity; Micromelia; Midface retrusion; Nail dysplasia; Narrow femoral neck; Osteoarthritis; Platyspondyly; Posterior scalloping of vertebral bodies; Scoliosis; Short nose; Short stature; Skeletal dysplasia; Slender distal phalanx of finger; Slender metacarpals; Slender proximal phalanx of finger; Small epiphyses; Soft skin; Spinal dysraphism; Spondyloepimetaphyseal dysplasia; Streaky metaphyseal sclerosis; Wide nose
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
LZTR122q11.21100%gene with protein product600574Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Abnormality of the sternum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Autosomal dominant inheritance; Coarctation of aorta; Coarse hair; Cryptorchidism; Cystic hygroma; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Feeding difficulties in infancy; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Midface retrusion; Mitral stenosis; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Scoliosis; Short neck; Short stature; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Webbed neck; Wide intermamillary distance
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
OBSL12q35100%gene with protein product610991Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Delayed eruption of teeth; Delayed skeletal maturation; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Long philtrum; Malar flattening; Micromelia; Midface retrusion; Pointed chin; Prominent nasal tip; Protruding ear; Rocker bottom foot; Scapular winging; Short neck; Short stature; Short thorax; Slender long bone; Thick eyebrow; Thin ribs; Triangular face
PTPN1112q24.1399.75%gene with protein product176876NS1Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal joint morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pulmonary artery; Abnormality of the spleen; Amegakaryocytic thrombocytopenia; Aplasia of the ovary; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Aseptic necrosis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Bone pain; Bowing of the long bones; Brachydactyly; Bundle branch block; Cafe-au-lait spot; Cleft palate; Clinodactyly; Coarctation of aorta; Coarse hair; Cranial nerve paralysis; Cryptorchidism; Cubitus valgus; Cystic hygroma; Decreased fertility; Delayed menarche; Delayed puberty; Delayed skeletal maturation; Dental malocclusion; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Epicanthus; Exostoses; Failure to thrive in infancy; Feeding difficulties in infancy; Freckling; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hyperextensible skin; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hyposmia; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Limited elbow movement; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Male infertility; Mandibular prognathia; Melanocytic nevus; Micrognathia; Micropenis; Midface retrusion; Missing ribs; Mitral valve prolapse; Multiple digital exostoses; Multiple enchondromatosis; Multiple lentigines; Muscle weakness; Muscular hypotonia; Myopia; Neurofibrosarcoma; Parietal bossing; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Posteriorly rotated ears; Postnatal growth retardation; Proptosis; Protruding ear; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Scapular winging; Scoliosis; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short stature; Somatic mutation; Spina bifida occulta; Sprengel anomaly; Strabismus; Subvalvular aortic stenosis; Superior pectus carinatum; Synovitis; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Third degree atrioventricular block; Triangular face; Unilateral renal agenesis; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide nasal bridgeBone Marrow Failure Syndromes
RAF13p25.299.8%gene with protein product164760Abnormal bleeding; Abnormal dermatoglyphics; Abnormal facial shape; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the sternum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrioventricular canal defect; Autosomal dominant inheritance; Bundle branch block; Cafe-au-lait spot; Coarse hair; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Delayed skeletal maturation; Depressed nasal bridge; Dilated cardiomyopathy; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Enlarged thorax; Epicanthus; Feeding difficulties in infancy; Freckling; Global developmental delay; Hepatomegaly; High forehead; High palate; Hyperextensible skin; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Intrauterine growth retardation; Joint hyperflexibility; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Mandibular prognathia; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Multiple lentigines; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Scapular winging; Scoliosis; Severe sensorineural hearing impairment; Short neck; Short stature; Sprengel anomaly; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Webbed neck; Wide intermamillary distance; Wide nasal bridge
RASA23q2398.77%gene with protein product601589Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Coarse hair; Cryptorchidism; Cystic hygroma; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Feeding difficulties in infancy; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Midface retrusion; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Proptosis; Ptosis; Pulmonary artery stenosis; Scoliosis; Short stature; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Webbed neck; Wide intermamillary distance
RIT11q22100%gene with protein product609591RITAbnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Abnormality of the sternum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Coarse hair; Cryptorchidism; Curly hair; Cystic hygroma; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Hepatomegaly; High forehead; High palate; Hyperkeratosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Micrognathia; Midface retrusion; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Polyhydramnios; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Relative macrocephaly; Scoliosis; Short neck; Short stature; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distancePalmoplantar keratoderma plus congenital ichthyosis
RRAS19q13.3399.95%gene with protein product165090Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Coarse hair; Cryptorchidism; Cystic hygroma; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Feeding difficulties in infancy; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Midface retrusion; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Proptosis; Ptosis; Pulmonary artery stenosis; Scoliosis; Short stature; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Webbed neck; Wide intermamillary distance
SOS12p22.199.95%gene with protein product182530GINGFAbnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Autosomal dominant inheritance; Blue irides; Coarse hair; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Epicanthus; Feeding difficulties in infancy; Gingival fibromatosis; Gingival overgrowth; Hepatomegaly; High anterior hairline; High forehead; High palate; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Micrognathia; Midface retrusion; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Scoliosis; Short neck; Short stature; Sparse and thin eyebrow; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance
SOS214q21.399.64%gene with protein product601247Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Autosomal dominant inheritance; Coarctation of aorta; Coarse hair; Cryptorchidism; Curly hair; Cystic hygroma; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Feeding difficulties in infancy; Hepatomegaly; High forehead; High palate; Hyperkeratosis pilaris; Hypertelorism; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Midface retrusion; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Scoliosis; Short neck; Short stature; Sparse and thin eyebrow; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Webbed neck; Wide intermamillary distance


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