XomeDxSlice Tool

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

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Phenotypes
Underdeveloped supraorbital ridges

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ANTXR12p13.398%gene with protein product606410Abnormal form of the vertebral bodies; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral vasculature; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the palate; Alopecia; Anteverted nares; Autosomal recessive inheritance; Breast hypoplasia; Broad forehead; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Early balding; Everted lower lip vermilion; Frontal bossing; Glaucoma; Growth delay; High forehead; Hyperextensible skin; Hypertelorism; Hypoplastic nipples; Hypotrichosis; Joint hyperflexibility; Keratoconus; Long philtrum; Low-set ears; Mandibular prognathia; Micrognathia; Midface retrusion; Nystagmus; Optic atrophy; Palpebral edema; Prematurely aged appearance; Prominent scalp veins; Protruding ear; Short stature; Skin tags; Sparse and thin eyebrow; Sparse eyelashes; Thick lower lip vermilion; Thick nasal alae; Tubulointerstitial fibrosis; Umbilical hernia; Underdeveloped supraorbital ridges; Unerupted tooth; Visual impairment; Wide anterior fontanel
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
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
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
CITED26q24.1100%gene with protein product602937Abnormal nasal morphology; Atrial septal defect; Autosomal dominant inheritance; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Cryptorchidism; Dolichocephaly; Intrauterine growth retardation; Perimembranous ventricular septal defect; Preauricular pit; Proptosis; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges
ESCO28p21.1100%gene with protein product609353RBSAbnormality of cardiovascular system morphology; Abnormality of the metacarpal bones; Absent earlobe; Absent radius; Accessory spleen; Ankle contracture; Aortic valve stenosis; Aplasia of the ulna; Aplasia/Hypoplasia of the thumb; Atrial septal defect; Autosomal recessive inheritance; Bicornuate uterus; Biliary tract abnormality; Blue sclerae; Bowing of the long bones; Brachycephaly; Brachydactyly; Cafe-au-lait spot; Cataract; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Complete duplication of thumb phalanx; Cranial nerve paralysis; Craniosynostosis; Cryptorchidism; Cystic hygroma; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged labia minora; External ear malformation; Eyelid coloboma; Fair hair; Frontal encephalocele; Global developmental delay; Hand oligodactyly; High palate; Hip contracture; Horseshoe kidney; Hydrocephalus; Hypertelorism; Hypoplasia of the radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Knee flexion contracture; Long penis; Low-set ears; Malar flattening; Mesomelic arm shortening; Microcephaly; Micrognathia; Microphthalmia; Midface capillary hemangioma; Narrow naris; Opacification of the corneal stroma; Patent ductus arteriosus; Phocomelia; Polycystic kidney dysplasia; Polyhydramnios; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Premature separation of centromeric heterochromatin; Proptosis; Proximal placement of thumb; Radial deviation of finger; Radioulnar synostosis; Seizures; Severe intrauterine growth retardation; Shallow orbits; Short neck; Short stature; Short thumb; Sparse hair; Syndactyly; Talipes equinovalgus; Tetraphocomelia; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Ventricular septal defect; Wide nasal bridge; Wormian bones; Wrist flexion contracture
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
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
GATA520q13.3399.96%gene with protein product611496Abnormal nasal morphology; Aortic arch aneurysm; Aortic regurgitation; Aortic valve calcification; Aortic valve stenosis; Bicuspid aortic valve; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Dolichocephaly; Heart murmur; Hypertension; Intrauterine growth retardation; Preauricular pit; Proptosis; Tetralogy of Fallot; Thin vermilion border; Thoracic aorta calcification; Underdeveloped supraorbital ridges
GATA618q11.2100%gene with protein product601656Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Congenital diaphragmatic hernia; Cryptorchidism; Diabetes mellitus; Dolichocephaly; Double outlet right ventricle; Exocrine pancreatic insufficiency; Failure to thrive; Feeding difficulties; Global developmental delay; Glycosuria; Hyperglycemia; Intellectual disability; Intermittent diarrhea; Interrupted aortic arch; Intrauterine growth retardation; Muscular ventricular septal defect; Neonatal insulin-dependent diabetes mellitus; Pancreatic aplasia; Pancreatic hypoplasia; Patent ductus arteriosus; Patent foramen ovale; Perimembranous ventricular septal defect; Postaxial polydactyly; Preauricular pit; Proptosis; Pulmonary artery stenosis; Pulmonic stenosis; Secundum atrial septal defect; Small for gestational age; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges; Ventricular septal defect
GDF119p13.11100%gene with protein product602880Abnormal lung lobation; Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Agenesis of corpus callosum; Anomalous pulmonary venous return; Asplenia; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Common atrium; Complete atrioventricular canal defect; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Intrauterine growth retardation; Polysplenia; Postaxial polydactyly; Preauricular pit; Proptosis; Pulmonary artery atresia; Pulmonic stenosis; Right atrial isomerism; Situs inversus totalis; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges; Ventricular septal defectHeterotaxy
GHR5p13.1-p1299.58%gene with protein product600946Abnormal facial shape; Abnormal joint morphology; Abnormality of metabolism/homeostasis; Abnormality of the elbow; Aplasia/Hypoplasia involving the nose; Autosomal recessive inheritance; Brachydactyly; Decreased serum insulin-like growth factor 1; Delayed eruption of teeth; Delayed menarche; Delayed puberty; Delayed skeletal maturation; High forehead; High pitched voice; Hypoglycemia; Hypoplasia of penis; Hypoplastic nasal bridge; Microdontia; Micrognathia; Motor delay; Reduced number of teeth; Severe short stature; Short long bone; Short stature; Short toe; Small face; Truncal obesity; Underdeveloped supraorbital ridgesObesity
GJA51q21.2100%gene with protein product121013Abnormal nasal morphology; Atrial cardiomyopathy; Atrial fibrillation; Atrial standstill; Autism; Autosomal dominant inheritance; Brachydactyly; Broad forehead; Broad hallux; Broad thumb; Bulbous nose; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Deeply set eye; Dolichocephaly; Endocardial fibroelastosis; First degree atrioventricular block; Frontal bossing; Incomplete penetrance; Intellectual disability; Intrauterine growth retardation; Microcephaly; Patent ductus arteriosus; Preauricular pit; Premature atrial contractions; Proptosis; Schizophrenia; Sporadic; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges
JAG120p12.2100%gene with protein product601920AGS, JAGL1Abnormal nasal morphology; Abnormality of the ribs; Areflexia; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Band keratopathy; Brachydactyly; Broad forehead; Butterfly vertebral arch; Cataract; Chorioretinal atrophy; Cirrhosis; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Dolichocephaly; Elevated hepatic transaminases; Exocrine pancreatic insufficiency; Failure to thrive; Hemivertebrae; Hepatocellular carcinoma; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hypoplasia of the ulna; Incomplete penetrance; Infantile onset; Intrauterine growth retardation; Long nose; Macrotia; Microcornea; Multiple small medullary renal cysts; Myopia; Papillary thyroid carcinoma; Peripheral pulmonary artery stenosis; Pigmentary retinopathy; Posterior embryotoxon; Preauricular pit; Prolonged neonatal jaundice; Proptosis; Reduced number of intrahepatic bile ducts; Renal dysplasia; Renal hypoplasia; Renal tubular acidosis; Short distal phalanx of finger; Specific learning disability; Strabismus; Stroke; Tetralogy of Fallot; Thin vermilion border; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral refluxVACTERL Association
KLHL77p15.3100%gene with protein product611119Abnormal anterior chamber morphology; Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Abnormality of retinal pigmentation; Abnormality of the pancreas; Abnormality of the retinal vasculature; Abnormality of the testis; Accessory oral frenulum; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Biparietal narrowing; Blindness; Camptodactyly of finger; Cataract; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Conductive hearing impairment; Convex nasal ridge; Death in infancy; Elbow dislocation; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertelorism; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Keratoconus; Limitation of joint mobility; Low anterior hairline; Low-set ears; Microcephaly; Narrow chest; Nevus flammeus of the forehead; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pallor; Photophobia; Platyspondyly; Progressive night blindness; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Short thorax; Strabismus; Supernumerary nipple; Synophrys; Thick hair; Trigonocephaly; Ulnar deviation of finger; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide intermamillary distance; Wide nasal bridge
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
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
MAP2K115q22.31100%gene with protein product176872PRKMK1Abnormal bleeding; Abnormal heart valve morphology; Abnormality of the palpebral fissures; Abnormality of the ulna; Abnormality of vision; Amegakaryocytic thrombocytopenia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Autosomal dominant inheritance; Biparietal narrowing; Brachydactyly; Brittle hair; Cavernous hemangioma; Clinodactyly; Coarctation of aorta; Coarse facial features; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Deep palmar crease; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; Heterogeneous; High forehead; High palate; High, narrow palate; Hyperextensible skin; Hyperhidrosis; Hyperkeratosis pilaris; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Micrognathia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Neurofibrosarcoma; Nystagmus; Palmoplantar keratoderma; Patent ductus arteriosus; Pectus excavatum; Pectus excavatum of inferior sternum; Postnatal growth retardation; Premature birth; Ptosis; Pulmonic stenosis; Radial deviation of finger; Reduced bone mineral density; Reduced factor XII activity; Reduced factor XIII activity; Scoliosis; Seizures; Sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Strabismus; Superior pectus carinatum; Synovitis; Thickened helices; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Webbed neck; Wide mouth
MAP2K219p13.3100%gene with protein product601263PRKMK2Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormal heart valve morphology; Abnormal ventricular septum morphology; Abnormality of lateral ventricle; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the sternum; Abnormality of the thorax; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Biparietal narrowing; Brittle hair; Cavernous hemangioma; Cerebellar hypoplasia; Coarse facial features; Congenital cataract; Cryptorchidism; Deep palmar crease; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dysphagia; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; High forehead; High palate; Hyperextensible skin; Hyperhidrosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Narrow forehead; Nystagmus; Optic nerve hypoplasia; Palmoplantar keratoderma; Pectus excavatum; Premature birth; Prolonged bleeding time; Ptosis; Pulmonic stenosis; Scoliosis; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Specific learning disability; Strabismus; Telecanthus; Thickened helices; Underdeveloped supraorbital ridges; Webbed neck
MASP13q27.3100%gene with protein product600521CRARF, PRSS5Abnormal anterior chamber morphology; Abnormality of eye movement; Atrial septal defect; Autosomal recessive inheritance; Bilateral cryptorchidism; Blepharophimosis; Broad foot; Caudal appendage; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Conjunctival telangiectasia; Coronal craniosynostosis; Craniosynostosis; Dental crowding; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Glaucoma; Growth delay; Hearing impairment; Highly arched eyebrow; Hydronephrosis; Hyperlordosis; Hypertelorism; Intellectual disability; Intellectual disability, mild; Lambdoidal craniosynostosis; Large fleshy ears; Limited pronation/supination of forearm; Microcephaly; Omphalocele; Oral cleft; Patent ductus arteriosus; Postnatal growth retardation; Ptosis; Radioulnar synostosis; Sacral dimple; Scoliosis; Short 5th finger; Short foot; Single interphalangeal crease of fifth finger; Skull asymmetry; Spina bifida occulta; Supernumerary nipple; Telecanthus; Underdeveloped supraorbital ridges; Ventricular septal defect; Wide anterior fontanel
NKX2-55q34100%gene with protein product600584CSX, NKX2EAbdominal distention; Abnormal cardiac septum morphology; Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Aortic arch aneurysm; Aortic regurgitation; Aortic valve atresia; Aortic valve calcification; Aortic valve stenosis; Arrhythmia; Atrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad forehead; Broad hallux; Bundle branch block; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Complete atrioventricular canal defect; Congenital hypothyroidism; Constipation; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Ectopic thyroid; Fatigue; Feeding difficulties; Global developmental delay; Growth delay; Heart murmur; Hypersomnia; Hypertension; Hypoplastic aortic arch; Hypoplastic left heart; Hypothyroidism; Intellectual disability, progressive; Intellectual disability, severe; Intrauterine growth retardation; Jaundice; Large fontanelles; Macroglossia; Mitral atresia; Muscle weakness; Muscular hypotonia; Postaxial polydactyly; Preauricular pit; Prolonged PR interval; Proptosis; Secundum atrial septal defect; Short stature; Tetralogy of Fallot; Thin vermilion border; Thoracic aorta calcification; Thyroid agenesis; Thyroid hypoplasia; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped supraorbital ridges; Ventricular septal defectHeterotaxy
NKX2-68p21.2100%gene with protein product611770Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Intrauterine growth retardation; Postaxial polydactyly; Preauricular pit; Proptosis; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges
NSUN25p15.31100%gene with protein product610916MRT5Abnormality of female external genitalia; Abnormality of the antihelix; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blepharophimosis; Broad thumb; Clinodactyly of the 5th finger; Cryptorchidism; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dysarthria; Eczema; Epicanthus; Fine hair; Global developmental delay; Hearing impairment; Hyperreflexia; Hypertelorism; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Long face; Low anterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Short chin; Short foot; Short philtrum; Short stature; Sloping forehead; Small for gestational age; Small hand; Smooth philtrum; Sparse lateral eyebrow; Sparse scalp hair; Spasticity; Strabismus; Submucous cleft hard palate; Synophrys; Telecanthus; Thick eyebrow; Thick upper lip vermilion; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide anterior fontanel
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX101p36.32100%gene with protein product602859Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar atrophy; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetric saccades; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Impaired smooth pursuit; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Slow progression; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX11B1q21.1100%gene with protein product603867Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dry skin; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypospadias; Intellectual disability, mild; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Migraine; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive hearing impairment; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Urinary incontinence; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1217q12100%gene with protein product601758Abnormal bleeding; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital onset; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Depressed nasal ridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypocholesterolemia; Hyporeflexia; Hypospadias; Intellectual disability; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Malar flattening; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Osteoporosis; Polycystic kidney dysplasia; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Steatorrhea; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX132p15100%gene with protein product601789Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; CNS hypomyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Jaundice; Large face; Lissencephaly; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Multiple renal cysts; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Respiratory tract infection; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Visual loss; Wide anterior fontanel; Wide nasal bridge
PEX141p36.22100%gene with protein product601791Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the eye; Abnormality of the liver; Abnormality of the nasal bridge; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Large fontanelles; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX191q23.2100%gene with protein product600279PXFAbnormal chorioretinal morphology; Abnormal cortical bone morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the hairline; Abnormality of the liver; Abnormality of the male genitalia; Abnormality of the palate; Anteverted nares; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Cerebral atrophy; Cholelithiasis; Clitoral hypertrophy; CNS demyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cranial asymmetry; Cryptorchidism; Death in infancy; Decreased body weight; Decreased fetal movement; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; Double outlet right ventricle; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydronephrosis; Hyperbilirubinemia; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Periorbital fullness; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal tubular dysfunction; Respiratory insufficiency; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX2622q11.21100%gene with protein product608666Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Talipes equinovarus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX512p13.31100%gene with protein product600414PXR1Abnormal chorioretinal morphology; Abnormal facial shape; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the mitochondrion; Abnormality of the palate; Adrenal insufficiency; Aminoaciduria; Anteverted nares; Apnea; Areflexia; Asthma; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad-based gait; Brushfield spots; Camptodactyly; Cataract; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Coxa vara; Cryptorchidism; Cubitus valgus; Death in childhood; Death in infancy; Decreased body weight; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; Esotropia; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Frontal bossing; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplasia of the thymus; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Joint contracture of the hand; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Metaphyseal cupping; Metaphyseal irregularity; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Peripheral neuropathy; Pes cavus; Pigmentary retinopathy; Polar cataract; Polycystic kidney dysplasia; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short femoral neck; Short stature; Single transverse palmar crease; Sinus tachycardia; Skeletal dysplasia; Spasticity; Stippled chondral calcification; Strabismus; Talipes equinovarus; Thoracic scoliosis; Turricephaly; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Vertical nystagmus; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PRMT716q22.199.89%gene with protein product610087Astigmatism; Autosomal recessive inheritance; Brachydactyly; Broad nasal tip; Deeply set eye; Delayed myelination; Delayed speech and language development; Depressed nasal bridge; Epicanthus; Frontal bossing; Generalized hypotonia; Global developmental delay; High palate; Infantile onset; Intellectual disability; Long philtrum; Malar flattening; Microcephaly; Obesity; Pseudohypoparathyroidism; Retrognathia; Seizures; Short metacarpal; Short metatarsal; Short neck; Short palpebral fissure; Short stature; Strabismus; Thin vermilion border; Underdeveloped supraorbital ridges; Wide nasal bridgeObesity
RAB236p12.1-p11.299.17%gene with protein product606144Abnormal cornea morphology; Abnormality of the pinna; Agenesis of permanent teeth; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the middle phalanges of the toes; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad thumb; Camptodactyly; Cerebral atrophy; Clinodactyly of the 5th finger; Cloverleaf skull; Complete duplication of proximal phalanx of the thumb; Conductive hearing impairment; Coronal craniosynostosis; Coxa valga; Craniosynostosis; Cryptorchidism; Depressed nasal bridge; Duplication of the proximal phalanx of the hallux; Epicanthus; External genital hypoplasia; Finger syndactyly; Flared iliac wings; Genu valgum; Genu varum; High palate; Hydronephrosis; Hydroureter; Hypoplasia of the maxilla; Intellectual disability; Joint contracture of the hand; Lambdoidal craniosynostosis; Large foramen magnum; Lateral displacement of patellae; Low-set ears; Malar flattening; Metatarsus adductus; Microcornea; Micrognathia; Midface retrusion; Obesity; Omphalocele; Opacification of the corneal stroma; Optic atrophy; Oxycephaly; Patent ductus arteriosus; Persistence of primary teeth; Polysplenia; Postaxial hand polydactyly; Preauricular pit; Preaxial foot polydactyly; Precocious puberty; Pseudoepiphyses of the proximal phalanges of the hand; Pulmonic stenosis; Sacral dimple; Sagittal craniosynostosis; Scoliosis; Sensorineural hearing impairment; Shallow acetabular fossae; Short neck; Short stature; Spina bifida occulta; Telecanthus; Tetralogy of Fallot; Toe syndactyly; Transposition of the great arteries; Umbilical hernia; Underdeveloped supraorbital ridges; Ventricular septal defectObesity
RBM10Xp11.399.52%gene with protein product300080Abnormality of the corpus callosum; Anteverted nares; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Cutaneous syndactyly; Deep palmar crease; Failure to thrive; Generalized hypotonia; Global developmental delay; Glossoptosis; High palate; Horseshoe kidney; Hydronephrosis; Hypoplasia of the radius; Intrauterine growth retardation; Large fontanelles; Low-set ears; Micrognathia; Microtia; Posteriorly rotated ears; Prominent antihelix; Short palpebral fissure; Single transverse palmar crease; Talipes equinovarus; Underdeveloped supraorbital ridges; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritance
SLC25A241p13.3100%gene with protein product608744Abnormal dermatoglyphics; Abnormality of the foot; Abnormality of the metacarpal bones; Abnormality of the nail; Abnormality of vision; Aplasia/Hypoplasia of the nasal bone; Astigmatism; Brachycephaly; Brittle hair; Broad forehead; Coarse hair; Conductive hearing impairment; Congenital craniofacial dysostosis; Coronal craniosynostosis; Decreased skull ossification; Epicanthus; Everted lower lip vermilion; Failure to thrive; Generalized hirsutism; Hypertelorism; Hypoplasia of the maxilla; Intrauterine growth retardation; Lipoatrophy; Long eyelashes in irregular rows; Low anterior hairline; Low-set, posteriorly rotated ears; Mandibular prognathia; Nystagmus; Oligodontia; Patent ductus arteriosus; Prematurely aged appearance; Reduced number of teeth; Reduced subcutaneous adipose tissue; Redundant skin; Sclerocornea; Shagreen patch; Short distal phalanx of finger; Short stature; Sparse hair; Strabismus; Thick eyebrow; Umbilical hernia; Underdeveloped supraorbital ridges; Wide anterior fontanel
SOX112p25.2100%gene with protein product600898Abnormal facial shape; Abnormality of cardiovascular system morphology; Abnormality of the columella; Abnormality of the dentition; Abnormality of the nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Clinodactyly; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Everted lower lip vermilion; Feeding difficulties in infancy; Full cheeks; Generalized hirsutism; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hypertrichosis; Hypoplastic fifth fingernail; Hypoplastic fifth toenail; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Long nose; Low-set ears; Microcephaly; Midface retrusion; Muscular hypotonia; Nystagmus; Open mouth; Posteriorly rotated ears; Recurrent respiratory infections; Scoliosis; Seizures; Short chin; Short distal phalanx of finger; Short nose; Short palpebral fissure; Short philtrum; Short stature; Slow-growing hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide mouth; Wide nasal bridge
TCF1215q21.3100%gene with protein product600480Autosomal dominant inheritance; Brachycephaly; Broad forehead; Craniosynostosis; Facial asymmetry; Frontal bossing; Hearing impairment; Increased intracranial pressure; Plagiocephaly; Proptosis; Strabismus; Underdeveloped supraorbital ridges; Visual field defect
TRAPPC98q24.3100%gene with protein product611966Abnormality of the cerebellar vermis; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congenital hypothyroidism; Congenital stationary night blindness; Downturned corners of mouth; Epicanthus; Generalized myoclonic seizures; Global developmental delay; Horizontal eyebrow; Hyperactivity; Hypertelorism; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intellectual disability, severe; Large fleshy ears; Malignant hyperthermia; Microcephaly; Multifocal cerebral white matter abnormalities; Muscular hypotonia; Narrow forehead; Obesity; Postnatal microcephaly; Round face; Short neck; Short philtrum; Smooth philtrum; Synophrys; Tapered finger; Thin upper lip vermilion; Underdeveloped supraorbital ridges; Wide nasal bridgeObesity
TTC375q15100%gene with protein product614589KIAA0372Abnormality of iron homeostasis; Abnormality of the immune system; Abnormality of the pancreas; Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brittle hair; Cholestasis; Cirrhosis; Cognitive impairment; Curly hair; Depressed nasal ridge; Diarrhea; Downslanted palpebral fissures; Failure to thrive; Fine hair; Frontal bossing; Galactosuria; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hypermethioninemia; Hypertelorism; Hypoalbuminemia; Intractable diarrhea; Intrauterine growth retardation; Jaundice; Large placenta; Long philtrum; Low-set ears; Microtia; Narrow mouth; Polyhydramnios; Prominent forehead; Proptosis; Renal cortical microcysts; Short stature; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Underdeveloped supraorbital ridges; Villous atrophy; Wide mouth; Wide nose; Woolly hairInflammatory Bowel Disease
TWIST17p21.199.38%gene with protein product601622ACS3, BPES3, TWIST, CRSAbnormal heart morphology; Abnormal morphology of the nasolacrimal system; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Absent first metatarsal; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharospasm; Brachycephaly; Brachydactyly; Breast carcinoma; Broad forehead; Broad hallux; Buphthalmos; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Convex nasal ridge; Coronal craniosynostosis; Craniosynostosis; Delayed cranial suture closure; Depressed nasal bridge; Dolichocephaly; Duplication of phalanx of hallux; External ear malformation; Facial asymmetry; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Hallux valgus; Hearing impairment; High forehead; Hyperlordosis; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Intellectual disability, moderate; Lambdoidal craniosynostosis; Long nose; Low anterior hairline; Low-set ears; Malar flattening; Microtia; Narrow internal auditory canal; Narrow nose; Narrow palate; Open bite; Oxycephaly; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Plagiocephaly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radioulnar synostosis; Scaphocephaly; Shallow orbits; Short stature; Skull asymmetry; Strabismus; Toe syndactyly; Turricephaly; Underdeveloped supraorbital ridges; Variable expressivity; Visual field defect
ZFPM28q23100%gene with protein product603693Abnormal nasal morphology; Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Autosomal dominant inheritance; Azoospermia; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Clitoral hypertrophy; Congenital diaphragmatic hernia; 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; Female external genitalia in individual with 46,XY karyotype; Fused labia minora; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Intrauterine growth retardation; Male infertility; Micropenis; Osteoporosis; Preauricular pit; Primary amenorrhea; Proptosis; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development
ZIC13q24100%gene with protein product600470Agenesis of corpus callosum; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Cerebellar atrophy; Coronal craniosynostosis; Craniosynostosis; Facial asymmetry; Frontal bossing; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertelorism; Increased intracranial pressure; Intellectual disability, moderate; Intellectual disability, severe; Oxycephaly; Papilledema; Plagiocephaly; Proptosis; Sagittal craniosynostosis; Strabismus; Underdeveloped supraorbital ridges; Visual field defect


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