XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Prominent occiput

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
CCDC22Xp11.2399.94%gene with protein product300859CXorf37Abnormal mitral valve morphology; Abnormal tricuspid valve morphology; Abnormality of the fontanelles or cranial sutures; Aortic valve stenosis; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Broad forehead; Broad hallux; Broad neck; Camptodactyly; Cerebellar hypoplasia; Cleft palate; Clinodactyly; Cryptorchidism; Dandy-Walker malformation; Death in infancy; Depressed nasal bridge; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; High, narrow palate; Hydrocephalus; Hypertelorism; Hypoplastic left heart; Intellectual disability; Kyphosis; Low posterior hairline; Low-set ears; Macrocephaly; Muscular hypotonia; Neurological speech impairment; Overlapping toe; Patent ductus arteriosus; Poor speech; Prominent occiput; Protruding tongue; Pulmonic stenosis; Recurrent respiratory infections; Scoliosis; Short distal phalanx of finger; Short nose; Short philtrum; Short stature; Syndactyly; Tetralogy of Fallot; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritance
CDKN1C11p15.487.26%gene with protein product600856BWCR, BWSAccelerated skeletal maturation; Adrenal hypoplasia; Adrenocortical carcinoma; Adrenocortical cytomegaly; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Diastasis recti; Enlarged kidney; Epiphyseal dysplasia; Frontal bossing; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Hydronephrosis; Hypercalcemia; Hypercalciuria; Hypogonadism; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Metaphyseal dysplasia; Micromelia; Micropenis; Midface retrusion; Muscular hypotonia; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Postnatal growth retardation; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Short nose; Short stature; Vesicoureteral refluxDisorders of Sex Development
CTSK1q21.3100%gene with protein product601105CTSO2, CTSO, PYCDAbnormal pelvis bone ossification; Abnormal vertebral morphology; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the thorax; Absent frontal sinuses; Autosomal recessive inheritance; Blue sclerae; Bone pain; Brachycephaly; Brachydactyly; Carious teeth; Delayed eruption of permanent teeth; Delayed eruption of primary teeth; Delayed eruption of teeth; Frontal bossing; High forehead; Hypodontia; Increased bone mineral density; Malar flattening; Micrognathia; Midface retrusion; Narrow palate; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Persistence of primary teeth; Persistent open anterior fontanelle; Prominent nose; Prominent occiput; Proptosis; Recurrent fractures; Ridged nail; Scoliosis; Short distal phalanx of finger; Short stature; Short toe; Skeletal dysplasia; Spondylolisthesis; Spondylolysis; Wormian bones
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
H1911p15.5RNA, long non-codingXomeDxSlice is not appropriate.103280Abdominal pain; Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Frontal bossing; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Macroglossia; Micrognathia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux
HRAS11p15.5100%gene with protein product190020HRAS1Abnormal dermatoglyphics; Abnormality of dental color; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of finger; Abnormality of the fingernails; Abnormality of toe; Abnormality of vision; Acanthosis nigricans; Achilles tendon contracture; Adenoma sebaceum; Alopecia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Arnold-Chiari type I malformation; Arrhythmia; Asymmetric growth; Atrial septal defect; Autosomal dominant inheritance; Barrel-shaped chest; Basal cell carcinoma; Biparietal narrowing; Bladder carcinoma; Bronchomalacia; Cavernous hemangioma; Cerebral atrophy; Cerebral cortical atrophy; Coarctation of aorta; Coarse facial features; Coloboma; Concave nail; Cranial asymmetry; Cryptorchidism; Curly hair; Deep palmar crease; Deep plantar creases; Deep-set nails; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Enlarged cerebellum; Epicanthus; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fragile nails; Frontal bossing; Full cheeks; Gastroesophageal reflux; Genu recurvatum; Global developmental delay; Hemangioma; Hemimegalencephaly; High palate; Hoarse voice; Horseshoe kidney; Hydrocephalus; Hyperextensibility of the finger joints; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypertelorism; Hypertrophic cardiomyopathy; Hypoglycemia; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplastic toenails; Ichthyosis; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Keratoconus; Kyphoscoliosis; Lack of skin elasticity; Limited elbow movement; Low-set ears; Macrocephaly; Macroglossia; Melanocytic nevus; Micrognathia; Microphthalmia; Mitral valve prolapse; Muscular hypotonia; Narrow palate; Nevus; Nevus sebaceous; Obstructive sleep apnea; Osteopenia; Overgrowth; Papilloma; Pectus carinatum; Plagiocephaly; Pneumothorax; Pointed chin; Polyhydramnios; Poor suck; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Ptosis; Pulmonic stenosis; Pyloric stenosis; Recurrent fractures; Reduced tendon reflexes; Redundant neck skin; Redundant skin; Respiratory failure; Rhabdomyosarcoma; Seizures; Short neck; Short stature; Somatic mosaicism; Sparse hair; Sporadic; Strabismus; Sudden death; Talipes equinovarus; Telecanthus; Thick lower lip vermilion; Thickened Achilles tendon; Thickened nuchal skin fold; Thin nail; Tracheomalacia; Ulnar deviation of finger; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Vestibular Schwannoma; Webbed neck; Wide anterior fontanel; Woolly hair
HYMAI6q24.2RNA, long non-codingXomeDxSlice is not appropriate.606546Abnormality of earlobe; Abnormality of the pancreatic islet cells; Arthrogryposis multiplex congenita; Bilateral ptosis; Cardiomegaly; Contractures of the joints of the lower limbs; Cryptorchidism; Dehydration; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Gingival overgrowth; Global developmental delay; Glycosuria; Hepatomegaly; High palate; Hyperglycemia; Hypoplastic fingernail; Hypovolemia; Intellectual disability; Intrauterine growth retardation; Ketonuria; Labial hypertrophy; Macroglossia; Micrognathia; Motor delay; Neonatal insulin-dependent diabetes mellitus; Neonatal respiratory distress; Oligohydramnios; Postnatal growth retardation; Precocious puberty; Prominent metopic ridge; Prominent nose; Prominent occiput; Retrognathia; Severe failure to thrive; Shallow orbits; Small anterior fontanelle; Transient neonatal diabetes mellitus; Umbilical hernia; Ventricular septal defect; Weight loss
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT4314q24.3100%gene with protein product614068C14orf179Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad nail; Craniosynostosis; Cutis laxa; Dolichocephaly; Dry skin; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fine hair; Finger syndactyly; Frontal bossing; Hypodontia; Hypoplasia of teeth; Hypotelorism; Joint hyperflexibility; Joint laxity; Microdontia; Narrow chest; Nephronophthisis; Osteoporosis; Pectus excavatum; Prominent occiput; Rhizomelia; Short distal phalanx of finger; Short nail; Short stature; Sparse hair; Syndactyly; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT5220q13.1299.95%gene with protein product617094C20orf9Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Carious teeth; Cone-shaped epiphyses of the phalanges of the hand; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Flat acetabular roof; Frontal bossing; Full cheeks; High forehead; Hypermetropia; Hypodontia; Hypoplasia of the corpus callosum; Hypotelorism; Joint hyperflexibility; Limb undergrowth; Low-set ears; Microdontia; Midface retrusion; Motor delay; Narrow chest; Osteoporosis; Pectus excavatum; Prominent occiput; Respiratory distress; Rhizomelia; Sandal gap; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Sparse hair; Telecanthus; Wide nasal bridgeShort-Rib Thoracic Dysplasia
IGF211p15.5100%gene with protein product147470C11orf43Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Decreased body weight; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Melanocytic nevus; Micrognathia; Midface retrusion; Motor delay; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Relative macrocephaly; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Short stature; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux; X-linked recessive inheritance
ITCH20q11.22100%gene with protein product606409Abnormal facial shape; Autoimmunity; Autosomal recessive inheritance; Camptodactyly; Clinodactyly; Dolichocephaly; Frontal bossing; Global developmental delay; Hepatomegaly; Low-set ears; Posteriorly rotated ears; Prominent occiput; Proptosis; Relative macrocephaly; Short chin; SplenomegalyAutoimmune Disorders
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
KCNQ111p15.5-p15.100%gene with protein product607542LQT, KCNA9Abnormality of the ear; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Atrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Cardiomegaly; Cardiomyopathy; Coarse facial features; Congenital sensorineural hearing impairment; Cryptorchidism; Dandy-Walker malformation; Diastasis recti; Enlarged kidney; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Heterogeneous; Large fontanelles; Macroglossia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Palpitations; Pancreatic hyperplasia; Posterior helix pit; Prolonged QT interval; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Shortened QT interval; Sudden cardiac death; Syncope; Tachycardia; Thromboembolic stroke; Torsade de pointes; Ventricular fibrillation; Vesicoureteral reflux
KCNQ1OT111p15.5RNA, long non-codingXomeDxSlice is not appropriate.604115LIT1Abnormality of the dentition; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Diastasis recti; Enlarged kidney; Facial asymmetry; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Intellectual disability, mild; Large fontanelles; Macroglossia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Scoliosis; Vesicoureteral reflux
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
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
MOGS2p13.1100%gene with protein product601336Autosomal recessive inheritance; Blepharophimosis; Cerebral atrophy; Congenital onset; Decreased antibody level in blood; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hand clenching; Hepatic failure; Hepatomegaly; High palate; Hypoplasia of the corpus callosum; Hypoventilation; Long eyelashes; Optic atrophy; Overlapping fingers; Prominent occiput; Recurrent fractures; Retrognathia; Seizures; Sensorineural hearing impairment; Short palpebral fissure; Thoracic scoliosis; Wide nose
MYCN2p24.3100%gene with protein product164840NMYCAccessory spleen; Annular pancreas; Anteverted nares; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Asplenia; Autosomal dominant inheritance; Blepharophimosis; Decreased fetal movement; Depressed nasal tip; Duodenal atresia; Elevated urinary catecholamines; Epicanthus; Esophageal atresia; Everted lower lip vermilion; Facial asymmetry; Hearing impairment; High palate; Intellectual disability; Low-set ears; Microcephaly; Micrognathia; Neoplasm of the nervous system; Patent ductus arteriosus; Polyhydramnios; Polysplenia; Posteriorly rotated ears; Prominent occiput; Short palpebral fissure; Short toe; Small anterior fontanelle; Specific learning disability; Thick vermilion border; Tracheoesophageal fistula; Triangular face; Upslanted palpebral fissure; Vocal cord paralysis; Wide nasal bridgeVACTERL Association
NOTCH21p1299.71%gene with protein product600275Abnormal cardiac septum morphology; Abnormality of the fingernails; Absent frontal sinuses; Anteverted nares; Arnold-Chiari malformation; Arthralgia; Atrial septal defect; Autosomal dominant inheritance; Basilar impression; Biconcave vertebral bodies; Bone pain; Brachydactyly; Broad forehead; Cervical instability; Cholestasis; Cholestatic liver disease; Coarse facial features; Conductive hearing impairment; Crowded carpal bones; Cryptorchidism; Decreased skull ossification; Dental malocclusion; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Elongated sella turcica; Epicanthus; Failure to thrive; Foot acroosteolysis; Full cheeks; Generalized hirsutism; Genu valgum; Hearing impairment; Hematuria; High palate; Hirsutism; Hydrocephalus; Hypertelorism; Hypertension; Hypoplastic 5th lumbar vertebrae; Hypospadias; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Large earlobe; Long eyelashes; Long nose; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Narrow mouth; Open bite; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Partial absence of toe; Patent ductus arteriosus; Pathologic fracture; Periodontitis; Peripheral pulmonary artery stenosis; Phenotypic variability; Platybasia; Pointed chin; Posterior embryotoxon; Premature loss of teeth; Prominent occiput; Proteinuria; Pulmonic stenosis; Recurrent fractures; Renal cyst; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Scoliosis; Short distal phalanx of finger; Short nail; Short neck; Short stature; Short toe; Skeletal dysplasia; Synophrys; Tall lumbar vertebral bodies; Telecanthus; Tetralogy of Fallot; Thick eyebrow; Thin vermilion border; Triangular face; Umbilical hernia; Vertebral compression fractures; Wide nose; Wormian bonesVACTERL Association
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
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
PLAGL16q24.2100%gene with protein product603044Abnormality of earlobe; Abnormality of the pancreatic islet cells; Arthrogryposis multiplex congenita; Bilateral ptosis; Cardiomegaly; Contractures of the joints of the lower limbs; Cryptorchidism; Dehydration; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Gingival overgrowth; Global developmental delay; Glycosuria; Hepatomegaly; High palate; Hyperglycemia; Hypoplastic fingernail; Hypovolemia; Intellectual disability; Intrauterine growth retardation; Ketonuria; Labial hypertrophy; Macroglossia; Micrognathia; Motor delay; Neonatal insulin-dependent diabetes mellitus; Neonatal respiratory distress; Oligohydramnios; Postnatal growth retardation; Precocious puberty; Prominent metopic ridge; Prominent nose; Prominent occiput; Retrognathia; Shallow orbits; Small anterior fontanelle; Transient neonatal diabetes mellitus; Umbilical hernia; Ventricular septal defect; Weight loss
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
SMG919q13.31100%gene with protein product613176C19orf61Abnormality of the pinna; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Camptodactyly of finger; Cerebral atrophy; Cleft lip; Dandy-Walker malformation; Delayed CNS myelination; Depressed nasal bridge; Everted lower lip vermilion; Gastroesophageal reflux; Generalized hypotonia; Global brain atrophy; Global developmental delay; Growth delay; Hand clenching; High, narrow palate; Hyperactive deep tendon reflexes; Hypertelorism; Hypoplasia of the corpus callosum; Interrupted aortic arch; Low-set ears; Microcephaly; Microphthalmia; Muscular hypotonia of the trunk; Narrow forehead; Polyhydramnios; Poor eye contact; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Prominent occiput; Thick lower lip vermilion; Ventricular septal defect; Visual impairment; Wide anterior fontanel; Wide nasal bridge
SUFU10q24.32100%gene with protein product607035Abnormality of the neck; Abnormality of the sternum; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal cell carcinoma; Bifid ribs; Brachydactyly; Bridged sella turcica; Broad face; Calcification of falx cerebri; Cardiac fibroma; Cardiac rhabdomyoma; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Coarse facial features; Dandy-Walker malformation; Down-sloping shoulders; Frontal bossing; Glaucoma; Hamartomatous stomach polyps; Hemivertebrae; Heterogeneous; Hydrocephalus; Hypertelorism; Incomplete penetrance; Intellectual disability, severe; Iris coloboma; Irregular ossification of hand bones; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Medulloblastoma; Melanocytic nevus; Microphthalmia; Milia; Motor delay; Neoplasm; Odontogenic keratocysts of the jaw; Orbital cyst; Ovarian carcinoma; Ovarian fibroma; Palmar pits; Parietal bossing; Plantar pits; Polydactyly; Postaxial hand polydactyly; Prominent occiput; Scoliosis; Short 4th metacarpal; Short distal phalanx of the thumb; Short ribs; Skin tags; Sloping forehead; Spina bifida; Sprengel anomaly; Strabismus; Supernumerary ribs; Triphalangeal thumb; Variable expressivity; Vertebral fusion; Vertebral wedging; Wide nasal bridge
TBX616p11.2100%gene with protein product602427Anteverted nares; Autosomal dominant inheritance; Autosomal recessive inheritance; Butterfly vertebrae; Disproportionate short-trunk short stature; Hemivertebrae; Hyperlordosis; Intrauterine growth retardation; Low back pain; Missing ribs; Posterior rib fusion; Prominent occiput; Scoliosis; Severe short stature; Short neck; Short thorax; Supernumerary ribs; Upslanted palpebral fissure; Vertebral fusion; Vertebral segmentation defect; Wide nasal bridge
TSC19q34100%gene with protein product605284TSCAbdominal pain; Abnormality of female internal genitalia; Abnormality of the respiratory system; Achromatic retinal patches; Adenoma sebaceum; Adult onset; Angiofibromas; Astrocytoma; Astrocytosis; Atelectasis; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Behavioral abnormality; Cafe-au-lait spot; Cardiac rhabdomyoma; Cerebral calcification; Chest pain; Chordoma; Chylothorax; Cognitive impairment; Confetti-like hypopigmented macules; Cortical dysplasia; Cortical tubers; Cough; Dental enamel pits; Dyspnea; EEG abnormality; Emphysema; Ependymoma; Focal seizures with impairment of consciousness or awareness; Focal white matter lesions; Gingival fibromatosis; Global developmental delay; Hematuria; Hemiparesis; Heterogeneous; Hypomelanotic macule; Hypopigmented skin patches; Hypothyroidism; Infantile onset; Infantile spasms; Intellectual disability; Lymphadenopathy; Multiple cafe-au-lait spots; Nevus flammeus; Optic atrophy; Optic nerve glioma; Papule; Phenotypic variability; Pneumothorax; Precocious puberty; Premature chromatid separation; Projection of scalp hair onto lateral cheek; Prominent occiput; Pulmonary infiltrates; Pulmonary lymphangiomyomatosis; Renal angiomyolipoma; Renal cell carcinoma; Renal cyst; Restrictive ventilatory defect; Retinal hamartoma; Seizures; Shagreen patch; Skin tags; Somatic mutation; Specific learning disability; Sporadic; Subcutaneous nodule; Subependymal giant-cell astrocytoma; Subependymal nodules; Subungual fibromas; Ungual fibroma; Wolff-Parkinson-White syndrome
TSC216p13.3100%gene with protein product191092TSC4Abdominal pain; Abnormality of female internal genitalia; Achromatic retinal patches; Adenoma sebaceum; Adult onset; Angiofibromas; Astrocytoma; Astrocytosis; Atelectasis; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Behavioral abnormality; Cafe-au-lait spot; Cardiac rhabdomyoma; Cerebral calcification; Chest pain; Chordoma; Chylothorax; Cognitive impairment; Confetti-like hypopigmented macules; Cortical dysplasia; Cortical tubers; Cough; Dyspnea; EEG abnormality; Emphysema; Ependymoma; Focal seizures with impairment of consciousness or awareness; Focal white matter lesions; Gingival fibromatosis; Global developmental delay; Hematuria; Hemiparesis; Heterogeneous; Hypopigmented skin patches; Hypothyroidism; Infantile onset; Infantile spasms; Intellectual disability; Lymphadenopathy; Multiple cafe-au-lait spots; Nevus flammeus; Optic atrophy; Optic nerve glioma; Papule; Phenotypic variability; Pneumothorax; Precocious puberty; Prominent occiput; Pulmonary infiltrates; Pulmonary lymphangiomyomatosis; Renal angiomyolipoma; Renal cell carcinoma; Renal cyst; Restrictive ventilatory defect; Retinal hamartoma; Seizures; Shagreen patch; Skin tags; Somatic mutation; Specific learning disability; Sporadic; Subcutaneous nodule; Subependymal giant-cell astrocytoma; Subependymal nodules; Subungual fibromas; Ungual fibroma; Wolff-Parkinson-White syndrome
WASHC58q24.1399.95%gene with protein productformer name = KIAA0196610657SPG8, KIAA0196Abnormal mitral valve morphology; Abnormal tricuspid valve morphology; Abnormality of the fontanelles or cranial sutures; Adrenal hypoplasia; Adult onset; Anal atresia; Aortic valve stenosis; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brachycephaly; Broad forehead; Cleft palate; Coloboma; Dandy-Walker malformation; Death in infancy; Degeneration of the lateral corticospinal tracts; Depressed nasal bridge; Double outlet right ventricle; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hemivertebrae; High forehead; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic left heart; Hypospadias; Impaired vibration sensation in the lower limbs; Insidious onset; Intellectual disability; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrocephaly; Micrognathia; Missing ribs; Muscular hypotonia; Neurological speech impairment; Pes cavus; Posterior fossa cyst; Progressive; Prominent occiput; Pulmonic stenosis; Recurrent respiratory infections; Scoliosis; Short nose; Short stature; Single umbilical artery; Spastic gait; Spastic paraplegia; Syndactyly; Tetralogy of Fallot; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventricular septal defect; Wide nasal bridge
WASHC58q24.1399.95%gene with protein productformer name = KIAA0196610657SPG8, KIAA0196Abnormal mitral valve morphology; Abnormal tricuspid valve morphology; Abnormality of the fontanelles or cranial sutures; Adrenal hypoplasia; Adult onset; Anal atresia; Aortic valve stenosis; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brachycephaly; Broad forehead; Cleft palate; Coloboma; Dandy-Walker malformation; Death in infancy; Degeneration of the lateral corticospinal tracts; Depressed nasal bridge; Double outlet right ventricle; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hemivertebrae; High forehead; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic left heart; Hypospadias; Impaired vibration sensation in the lower limbs; Insidious onset; Intellectual disability; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrocephaly; Micrognathia; Missing ribs; Muscular hypotonia; Neurological speech impairment; Pes cavus; Posterior fossa cyst; Progressive; Prominent occiput; Pulmonic stenosis; Recurrent respiratory infections; Scoliosis; Short nose; Short stature; Single umbilical artery; Spastic gait; Spastic paraplegia; Syndactyly; Tetralogy of Fallot; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventricular septal defect; Wide nasal bridge
WDR194p1499.92%gene with protein product608151Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad distal phalanx of finger; Broad phalanx of the toes; Cataract; Chronic tubulointerstitial nephritis; Cone-shaped epiphysis; Craniosynostosis; Cutis laxa; Dolichocephaly; Ectodermal dysplasia; Elevated serum creatinine; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Full cheeks; Global developmental delay; Hepatic cysts; Hip dysplasia; Hypermetropia; Hypertension; Hypodontia; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Metaphyseal widening; Microdontia; Micromelia; Myopia; Narrow chest; Nephronophthisis; Nephropathy; Osteoporosis; Pancreatic cysts; Pectus excavatum; Pes valgus; Premature ovarian insufficiency; Progressive visual loss; Prominent occiput; Proteinuria; Reduced visual acuity; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Rhizomelia; Rod-cone dystrophy; Short distal phalanx of finger; Short foot; Short iliac bones; Short stature; Short thorax; Skeletal dysplasia; Sparse hair; Stage 5 chronic kidney disease; Thin upper lip vermilion; Thoracic dysplasia; Visual impairmentEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
WDR352p24.199.89%gene with protein product613602Abdominal distention; Abnormal diaphysis morphology; Abnormal pelvis bone ossification; Abnormal toenail morphology; Abnormality of cardiovascular system morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the pinna; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Anteverted nares; Autosomal recessive inheritance; Blepharophimosis; Bowing of the long bones; Brachydactyly; Cleft upper lip; Congenital hepatic fibrosis; Craniosynostosis; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypodontia; Hypoplasia of penis; Hypoplastic scapulae; Hypospadias; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint laxity; Lethal skeletal dysplasia; Long philtrum; Low-set ears; Macrocephaly; Microdontia; Micrognathia; Micromelia; Narrow chest; Osteoporosis; Pectus excavatum; Polycystic kidney dysplasia; Polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Prominent occiput; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short distal phalanx of finger; Short foot; Short long bone; Short neck; Short palm; Short ribs; Short thorax; Sparse hair; Syndactyly; Telecanthus; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide nose; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia


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