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Phenotypes
Clitoral hypertrophy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AGPAT29q34.3100%gene with protein product603100BSCLAbnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Autosomal recessive inheritance; Bone cyst; Broad foot; Cirrhosis; Clitoral hypertrophy; Cystic angiomatosis of bone; Decreased fertility in females; Decreased serum leptin; Diabetes mellitus; Elevated hepatic transaminases; Generalized hirsutism; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; Hirsutism; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Macrotia; Mandibular prognathia; Nephrolithiasis; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent supraorbital ridges; Prominent umbilicus; Reduced intrathoracic adipose tissue; Skeletal muscle hypertrophy; Splenomegaly; Tall stature; Triangular face; Umbilical hernia
ATIC2q35100%gene with protein product601731Abnormality of metabolism/homeostasis; Abnormality of the skin; Anteverted nares; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Clitoral hypertrophy; Congenital blindness; Frontal bossing; Fused labia minora; Generalized hypotonia; Intellectual disability, profound; Intellectual disability, severe; Low-set ears; Optic atrophy; Prominent forehead; Prominent nasal bridge; Seizures; Thin upper lip vermilion; Wide mouth
ATIC2q35100%gene with protein product601731Abnormality of metabolism/homeostasis; Abnormality of the skin; Anteverted nares; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Clitoral hypertrophy; Congenital blindness; Frontal bossing; Fused labia minora; Generalized hypotonia; Intellectual disability, profound; Intellectual disability, severe; Low-set ears; Optic atrophy; Prominent forehead; Prominent nasal bridge; Seizures; Thin upper lip vermilion; Wide mouth
ATR3q2399.98%gene with protein product60121511 pairs of ribs; Abnormal finger flexion creases; Abnormality of dental enamel; Abnormality of the pinna; Abnormally large globe; Absent earlobe; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Cachexia; Carious teeth; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Dislocated radial head; Downslanted palpebral fissures; Elbow flexion contracture; Facial asymmetry; Glaucoma; High palate; Hip dislocation; Hip dysplasia; Hyperactivity; Hypoplasia of dental enamel; Hypoplasia of proximal fibula; Hypoplasia of proximal radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses; Joint hyperflexibility; Large basal ganglia; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Pancytopenia; Pes planus; Postnatal growth retardation; Prematurely aged appearance; Prominent nose; Proportionate short stature; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Selective tooth agenesis; Short stature; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse scalp hair; Strabismus; Talipes; TelangiectasiaAplastic Anemia ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Obesity
BSCL211q12.3100%gene with protein product606158GNG3LG, SPG17Abnormal pyramidal signs; Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Brisk reflexes; Broad foot; Cerebral atrophy; Cirrhosis; Clitoral hypertrophy; Coarse facial features; Cold-induced hand cramps; Congenital onset; Cystic angiomatosis of bone; Decreased fertility; Decreased fertility in females; Decreased serum leptin; Delayed speech and language development; Developmental regression; Diabetes mellitus; Distal amyotrophy; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Encephalopathy; First dorsal interossei muscle atrophy; First dorsal interossei muscle weakness; Generalized hirsutism; Generalized lipodystrophy; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; High pitched voice; Hirsutism; Hyperactivity; Hyperhidrosis; Hyperinsulinemia; Hyperreflexia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Impaired vibration sensation in the lower limbs; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Intellectual disability, mild; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Loss of speech; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Mandibular prognathia; Mental deterioration; Myoclonus; Nephrolithiasis; Neuronal loss in central nervous system; Onset; Pes cavus; Polycystic ovaries; Polyphagia; Poor motor coordination; Precocious puberty; Progressive; Progressive encephalopathy; Progressive psychomotor deterioration; Prominent supraorbital ridges; Prominent umbilicus; Reduced intraabdominal adipose tissue; Reduced intrathoracic adipose tissue; Reduced subcutaneous adipose tissue; Seizures; Skeletal muscle hypertrophy; Sleep disturbance; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Splenomegaly; Tall stature; Tetraparesis; Thenar muscle atrophy; Thenar muscle weakness; Tremor; Triangular face; Umbilical hernia; Upper limb muscle weakness
CCNQXq2899.95%gene with protein product300708FAM58AAbnormal cardiac septum morphology; Anal atresia; Anal stenosis; Bicornuate uterus; Bicuspid aortic valve; Broad nasal tip; Bulbous nose; Clinodactyly of the 5th finger; Clitoral hypertrophy; Ectopic kidney; Horseshoe kidney; Intrauterine growth retardation; Labial hypoplasia; Lop ear; Narrow nose; Pelvic kidney; Peripheral pulmonary artery stenosis; Rectovaginal fistula; Renal agenesis; Renal insufficiency; Short stature; Small for gestational age; Telecanthus; Thin upper lip vermilion; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; X-linked dominant inheritance
CCNQXq2899.95%gene with protein product300708FAM58AAbnormal cardiac septum morphology; Anal atresia; Anal stenosis; Bicornuate uterus; Bicuspid aortic valve; Broad nasal tip; Bulbous nose; Clinodactyly of the 5th finger; Clitoral hypertrophy; Ectopic kidney; Horseshoe kidney; Intrauterine growth retardation; Labial hypoplasia; Lop ear; Narrow nose; Pelvic kidney; Peripheral pulmonary artery stenosis; Rectovaginal fistula; Renal agenesis; Renal insufficiency; Short stature; Small for gestational age; Telecanthus; Thin upper lip vermilion; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; X-linked dominant inheritance
CD963q13.13-q13.99.8%gene with protein product606037Abnormality of cardiovascular system morphology; Abnormality of immune system physiology; Abnormality of the anus; Accessory oral frenulum; Anteverted nares; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Biparietal narrowing; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Cutis laxa; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Epicanthus; Failure to thrive; Failure to thrive in infancy; Female pseudohermaphroditism; Fused sternal ossification centers; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hepatomegaly; High palate; Hip dislocation; Hypoplasia of the ear cartilage; Intellectual disability; Limitation of joint mobility; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micromelia; Midline facial capillary hemangioma; Muscular hypotonia; Omphalocele; Patent ductus arteriosus; Pectus excavatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Radial deviation of finger; Redundant skin; Renal cortical cysts; Sacral dimple; Scoliosis; Seizures; Short metacarpal; Short neck; Short nose; Short stature; Smooth philtrum; Strabismus; Talipes; Thick anterior alveolar ridges; Thin vermilion border; Toe syndactyly; Trigonocephaly; Ulnar deviation of finger; Upslanted palpebral fissure; Ventricular septal defect; Wide mouth; Wide nasal bridge
CDC4522q11.21100%gene with protein product603465CDC45L2, CDC45L2-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the ribs; Anal atresia; Anal stenosis; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Bowing of the legs; Camptodactyly of finger; Choanal atresia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Clubbing; Complete atrioventricular canal defect; Craniosynostosis; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Duodenal stenosis; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Myopia; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Preaxial polydactyly; Progressive microcephaly; Proptosis; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Sagittal craniosynostosis; Scoliosis; Severe short stature; Short stature; Slender long bone; Strabismus; Thin eyebrow; Urethral stricture; Ventricular septal defect; Vesicoureteral reflux; Wide anterior fontanel
CDC4522q11.21100%gene with protein product603465CDC45L2, CDC45L2-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the ribs; Anal atresia; Anal stenosis; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Bowing of the legs; Camptodactyly of finger; Choanal atresia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Clubbing; Complete atrioventricular canal defect; Craniosynostosis; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Duodenal stenosis; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Myopia; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Preaxial polydactyly; Progressive microcephaly; Proptosis; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Sagittal craniosynostosis; Scoliosis; Severe short stature; Short stature; Slender long bone; Strabismus; Thin eyebrow; Urethral stricture; Ventricular septal defect; Vesicoureteral reflux; Wide anterior fontanel
CDC617q21.299.92%gene with protein product602627CDC18LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High, narrow palate; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Irregular femoral epiphysis; Joint hyperflexibility; Long philtrum; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Mild global developmental delay; Motor delay; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent metopic ridge; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Small earlobe; Triangular faceHeterotaxy
CDT116q24.3100%gene with protein product605525Abnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Emphysema; Failure to thrive; Feeding difficulties; Genu recurvatum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Lateral clavicle hook; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Thick lower lip vermilion
CYP11B18q24.3100%gene with protein product610613CYP11BAbnormal circulating aldosterone; Abnormal circulating renin; Abnormal EKG; Abnormality of hair growth rate; Abnormality of prenatal development or birth; Abnormality of the menstrual cycle; Abnormality of the urinary system; Accelerated bone age after puberty; Accelerated skeletal maturation; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia, female; Aortic root aneurysm; Autosomal dominant inheritance; Autosomal recessive inheritance; Clitoral hypertrophy; Congenital adrenal hyperplasia; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased testicular size; Delayed skeletal maturation; Dexamethasone-suppresible primary hyperaldosteronism; Ectopic adrenal gland; Enlarged polycystic ovaries; Female sexual dysfunction; Fused labia minora; Generalized hyperpigmentation; Hirsutism; Hyperaldosteronism; Hyperpigmentation of the skin; Hyperpigmented genitalia; Hypertension; Hypervolemia; Hypokalemia; Hypoplasia of the uterus; Hypoplasia of the vagina; Increased circulating ACTH level; Increased circulating androgen level; Long penis; Neonatal onset; Onset; Osteoporosis; Precocious puberty in males; Premature adrenarche; Renal salt wasting; Short stature; Tall stature; Urogenital sinus anomalyDisorders of Sex Development
CYP11B18q24.3100%gene with protein product610613CYP11BAbnormal circulating aldosterone; Abnormal circulating renin; Abnormal EKG; Abnormality of hair growth rate; Abnormality of prenatal development or birth; Abnormality of the menstrual cycle; Abnormality of the urinary system; Accelerated bone age after puberty; Accelerated skeletal maturation; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia, female; Aortic root aneurysm; Autosomal dominant inheritance; Autosomal recessive inheritance; Clitoral hypertrophy; Congenital adrenal hyperplasia; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased testicular size; Delayed skeletal maturation; Dexamethasone-suppresible primary hyperaldosteronism; Ectopic adrenal gland; Enlarged polycystic ovaries; Female sexual dysfunction; Fused labia minora; Generalized hyperpigmentation; Hirsutism; Hyperaldosteronism; Hyperpigmentation of the skin; Hyperpigmented genitalia; Hypertension; Hypervolemia; Hypokalemia; Hypoplasia of the uterus; Hypoplasia of the vagina; Increased circulating ACTH level; Increased circulating androgen level; Long penis; Neonatal onset; Onset; Osteoporosis; Precocious puberty in males; Premature adrenarche; Renal salt wasting; Short stature; Tall stature; Urogenital sinus anomalyDisorders of Sex Development
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DMRT39p24.3100%gene with protein product614754DMRTA3Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Micropenis; Osteoporosis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Streak ovary; Urogenital sinus anomaly; Vanishing testis
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
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
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
FRAS14q21.21100%gene with protein product607830Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
FREM213q13.3100%gene with protein product608945Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal 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
GMNN6p22.397.96%gene with protein product602842Abnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal dominant inheritance; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Conductive hearing impairment; Craniosynostosis; Cryptorchidism; Delayed puberty; Delayed skeletal maturation; Depressed nasal ridge; Failure to thrive; Feeding difficulties; Growth hormone deficiency; High, narrow palate; Hip dysplasia; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Recurrent respiratory infections; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Short middle phalanx of finger; Slender long bone; Stenosis of the external auditory canal; Umbilical hernia
GRIP112q14.3100%gene with protein product604597Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Fanconi Anemia ; Heterotaxy
HCCSXp22.2100%gene with protein product300056MLSAbnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Anteriorly placed anus; Arrhythmia; Asymmetric, linear skin defects; Atrial septal defect; Cataract; Chordee; Clitoral hypertrophy; Colpocephaly; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Hearing impairment; Histiocytoid cardiomyopathy; Hydrocephalus; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Hypoplasia of the uterus; Hypospadias; Iris coloboma; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Overriding aorta; Ovotestis; Pigmentary retinopathy; Retrognathia; Sclerocornea; Seizures; Severe short stature; Short stature; Ventricular septal defect; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritanceDisorders of Sex Development
HSD3B21p12100%gene with protein product613890Abnormal oral glucose tolerance; Abnormal sex determination; Abnormality of the menstrual cycle; Absence of secondary sex characteristics; Absent scrotum; Accelerated skeletal maturation; Acidosis; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Autosomal recessive inheritance; Bifid scrotum; Clitoral hypertrophy; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized hyperpigmentation; Glucose intolerance; Gynecomastia; Hyperkalemia; Hypernatriuria; Hyperpigmented genitalia; Hyponatremia; Hypospadias; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Insulin resistance; Male pseudohermaphroditism; Micropenis; Neonatal hypoglycemia; Osteoporosis; Perineal hypospadias; Premature adrenarche; Premature pubarche; Renal salt wasting; Urogenital sinus anomaly; VomitingDisorders of Sex Development
INSR19p13.2100%gene with protein product147670Abdominal distention; Abnormal C-peptide level; Abnormal facial shape; Abnormality of the abdominal wall; Abnormality of the thyroid gland; Acanthosis nigricans; Accelerated skeletal maturation; Adipose tissue loss; Advanced eruption of teeth; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cholestasis; Clitoral hypertrophy; Coarse facial features; Coarse hair; Cognitive impairment; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Diabetes mellitus; Diabetic ketoacidosis; Dry skin; Elfin facies; Fasting hyperinsulinemia; Fasting hypoglycemia; Fatigue; Feeding difficulties in infancy; Female pseudohermaphroditism; Generalized hirsutism; Generalized hyperpigmentation; Gingival overgrowth; Global developmental delay; Growth hormone excess; Gynecomastia; Hearing abnormality; Hepatic fibrosis; Heterogeneous; High palate; High, narrow palate; Hyperglycemia; Hyperinsulinemia; Hyperinsulinemic hypoglycemia; Hyperkeratosis; Hypermelanotic macule; Hypertelorism; Hypertrichosis; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Inguinal hernia; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Large hands; Lipoatrophy; Long foot; Long penis; Low-set ears; Low-set, posteriorly rotated ears; Macrotia; Mandibular prognathia; Nail dysplasia; Onychauxis; Ovarian cyst; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Postnatal growth retardation; Postprandial hyperglycemia; Precocious puberty; Prematurely aged appearance; Prominent nipples; Proptosis; Proteinuria; Recurrent hypoglycemia; Recurrent infections; Recurrent respiratory infections; Seizures; Severe failure to thrive; Short stature; Skeletal muscle atrophy; Small face; Small for gestational age; Subcutaneous nodule; Thick lower lip vermilion; Thick nail; Thick nasal alae; Thickened nuchal skin fold; Type II diabetes mellitus; Umbilical hernia; Wide mouthObesity
INSR19p13.2100%gene with protein product147670Abdominal distention; Abnormal C-peptide level; Abnormal facial shape; Abnormality of the abdominal wall; Abnormality of the thyroid gland; Acanthosis nigricans; Accelerated skeletal maturation; Adipose tissue loss; Advanced eruption of teeth; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cholestasis; Clitoral hypertrophy; Coarse facial features; Coarse hair; Cognitive impairment; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Diabetes mellitus; Diabetic ketoacidosis; Dry skin; Elfin facies; Fasting hyperinsulinemia; Fasting hypoglycemia; Fatigue; Feeding difficulties in infancy; Female pseudohermaphroditism; Generalized hirsutism; Generalized hyperpigmentation; Gingival overgrowth; Global developmental delay; Growth hormone excess; Gynecomastia; Hearing abnormality; Hepatic fibrosis; Heterogeneous; High palate; High, narrow palate; Hyperglycemia; Hyperinsulinemia; Hyperinsulinemic hypoglycemia; Hyperkeratosis; Hypermelanotic macule; Hypertelorism; Hypertrichosis; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Inguinal hernia; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Large hands; Lipoatrophy; Long foot; Long penis; Low-set ears; Low-set, posteriorly rotated ears; Macrotia; Mandibular prognathia; Nail dysplasia; Onychauxis; Ovarian cyst; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Postnatal growth retardation; Postprandial hyperglycemia; Precocious puberty; Prematurely aged appearance; Prominent nipples; Proptosis; Proteinuria; Recurrent hypoglycemia; Recurrent infections; Recurrent respiratory infections; Seizures; Severe failure to thrive; Short stature; Skeletal muscle atrophy; Small face; Small for gestational age; Subcutaneous nodule; Thick lower lip vermilion; Thick nail; Thick nasal alae; Thickened nuchal skin fold; Type II diabetes mellitus; Umbilical hernia; Wide mouthObesity
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
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
MAP3K15q11.2100%gene with protein product600982MEKK1Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Autosomal dominant inheritance; Azoospermia; Chordee; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysgerminoma; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gonadoblastoma; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Male pseudohermaphroditism; Micropenis; Osteoporosis; Polycystic ovaries; Primary amenorrhea; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Testicular dysgenesis; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development
NR0B1Xp21.299.98%gene with protein product300473AHC, DSSAbnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Absence of pubertal development; Adrenal hypoplasia; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Dehydration; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperpigmentation of the skin; Hypogonadotrophic hypogonadism; Hyponatremia; Hypoplasia of the vagina; Hypospadias; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscular dystrophy; Oligospermia; Osteoporosis; Polycystic ovaries; Precocious puberty; Primary amenorrhea; Renal salt wasting; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Testicular dysgenesis; Urogenital sinus anomaly; Vanishing testis; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development
NR5A19q33.3100%gene with protein product184757FTZF1Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Ambiguous genitalia; Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Azoospermia; Bifid scrotum; Clitoral hypertrophy; Cryptorchidism; Cryptozoospermia; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Non-obstructive azoospermia; Obstructive azoospermia; Osteopenia; Osteoporosis; Osteoporosis of vertebrae; Penoscrotal hypospadias; Polycystic ovaries; Premature ovarian insufficiency; Primary amenorrhea; Scrotal hypoplasia; Secondary amenorrhea; Sex reversal; Sex-limited autosomal dominant; Sparse axillary hair; Sparse pubic hair; Streak ovary; Streaky metaphyseal sclerosis; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development; Male Infertility
ORC11p32.3100%gene with protein product601902ORC1LAbnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the ribs; Absent glenoid fossa; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Blepharophimosis; Breast hypoplasia; Breech presentation; Camptodactyly; Camptodactyly of finger; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat glenoid fossa; Frontal bossing; Gastroesophageal reflux; Genu valgum; Genu varum; Hearing impairment; Hemivertebrae; Heterogeneous; High palate; High, narrow palate; Hyperconvex nail; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Incomplete partition of the cochlea type II; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long eyelashes; Low-set ears; Mandibular aplasia; Microcephaly; Microdontia; Micrognathia; Micropenis; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Pectus carinatum; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Shawl scrotum; Short palm; Short palpebral fissure; Short ribs; Slender long bone; Small anterior fontanelle; Small for gestational age; Small hand; Strabismus; Talipes equinovarus; Thick lower lip vermilion; Thin ribs; Thin skin
ORC11p32.3100%gene with protein product601902ORC1LAbnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the ribs; Absent glenoid fossa; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Blepharophimosis; Breast hypoplasia; Breech presentation; Camptodactyly; Camptodactyly of finger; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat glenoid fossa; Frontal bossing; Gastroesophageal reflux; Genu valgum; Genu varum; Hearing impairment; Hemivertebrae; Heterogeneous; High palate; High, narrow palate; Hyperconvex nail; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Incomplete partition of the cochlea type II; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long eyelashes; Low-set ears; Mandibular aplasia; Microcephaly; Microdontia; Micrognathia; Micropenis; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Pectus carinatum; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Shawl scrotum; Short palm; Short palpebral fissure; Short ribs; Slender long bone; Small anterior fontanelle; Small for gestational age; Small hand; Strabismus; Talipes equinovarus; Thick lower lip vermilion; Thin ribs; Thin skin
ORC42q23.199.23%gene with protein product603056ORC4LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dolichocephaly; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High pitched voice; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Smooth philtrum; Tracheomalacia; Underdeveloped nasal alae
ORC42q23.199.23%gene with protein product603056ORC4LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dolichocephaly; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High pitched voice; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Smooth philtrum; Tracheomalacia; Underdeveloped nasal alae
ORC616q11.2100%gene with protein product607213ORC6LAbnormality of epiphysis morphology; Abnormality of the ribs; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Coxa vara; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Downslanted palpebral fissures; Dyspnea; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Genu varum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Laryngomalacia; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microretrognathia; Microtia; Microtia, third degree; Narrow chest; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent nasal bridge; Recurrent pneumonia; Respiratory distress; Respiratory failure; Retrognathia; Scrotal hypoplasia; Severe short stature; Short ribs; Short thorax; Slender long bone; Talipes equinovarus; Thick lower lip vermilion; Tracheomalacia; Triangular face
ORC616q11.2100%gene with protein product607213ORC6LAbnormality of epiphysis morphology; Abnormality of the ribs; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Coxa vara; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Downslanted palpebral fissures; Dyspnea; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Genu varum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Laryngomalacia; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microretrognathia; Microtia; Microtia, third degree; Narrow chest; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent nasal bridge; Recurrent pneumonia; Respiratory distress; Respiratory failure; Retrognathia; Scrotal hypoplasia; Severe short stature; Short ribs; Short thorax; Slender long bone; Talipes equinovarus; Thick lower lip vermilion; Tracheomalacia; Triangular face
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
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
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
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
POR7q11.23100%gene with protein product124015Abnormal renal morphology; Abnormal sex determination; Abnormalities of placenta or umbilical cord; Abnormality of abdomen morphology; Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the labia majora; Abnormality of the menstrual cycle; Abnormality of the pinna; Absence of secondary sex characteristics; Accelerated skeletal maturation; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Arachnodactyly; Arnold-Chiari malformation; Atrial septal defect; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Bronchomalacia; Camptodactyly; Carpal synostosis; Choanal atresia; Choanal stenosis; Chordee; Clinodactyly; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital adrenal hyperplasia; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Ectopic adrenal gland; Enlarged polycystic ovaries; Female external genitalia in individual with 46,XY karyotype; Female sexual dysfunction; Femoral bowing; Flexion contracture; Frontal bossing; Fused labia minora; Generalized hyperpigmentation; Hemivertebrae; Horseshoe kidney; Humeroradial synostosis; Hydrocephalus; Hyperpigmented genitalia; Hypertelorism; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Increased circulating ACTH level; Increased serum testosterone level; Intellectual disability; Joint contracture of the hand; Labial hypoplasia; Lambdoidal craniosynostosis; Laryngomalacia; Long philtrum; Low maternal serum estriol; Low-set ears; Malar flattening; Male pseudohermaphroditism; Maternal virilization in pregnancy; Microcephaly; Micropenis; Midface retrusion; Narrow chest; Narrow pelvis bone; Oligohydramnios; Osteoporosis; Pear-shaped nose; Perineal hypospadias; Polycystic ovaries; Premature adrenarche; Proptosis; Radioulnar synostosis; Rocker bottom foot; Scoliosis; Scrotal hypoplasia; Short stature; Small for gestational age; Stenosis of the external auditory canal; Tall stature; Tarsal synostosis; Ulnar bowing; Upper airway obstruction; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistula; Wide anterior fontanelDisorders of Sex Development; Ectodermal Dysplasia
POR7q11.23100%gene with protein product124015Abnormal renal morphology; Abnormal sex determination; Abnormalities of placenta or umbilical cord; Abnormality of abdomen morphology; Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the labia majora; Abnormality of the menstrual cycle; Abnormality of the pinna; Absence of secondary sex characteristics; Accelerated skeletal maturation; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Arachnodactyly; Arnold-Chiari malformation; Atrial septal defect; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Bronchomalacia; Camptodactyly; Carpal synostosis; Choanal atresia; Choanal stenosis; Chordee; Clinodactyly; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital adrenal hyperplasia; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Ectopic adrenal gland; Enlarged polycystic ovaries; Female external genitalia in individual with 46,XY karyotype; Female sexual dysfunction; Femoral bowing; Flexion contracture; Frontal bossing; Fused labia minora; Generalized hyperpigmentation; Hemivertebrae; Horseshoe kidney; Humeroradial synostosis; Hydrocephalus; Hyperpigmented genitalia; Hypertelorism; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Increased circulating ACTH level; Increased serum testosterone level; Intellectual disability; Joint contracture of the hand; Labial hypoplasia; Lambdoidal craniosynostosis; Laryngomalacia; Long philtrum; Low maternal serum estriol; Low-set ears; Malar flattening; Male pseudohermaphroditism; Maternal virilization in pregnancy; Microcephaly; Micropenis; Midface retrusion; Narrow chest; Narrow pelvis bone; Oligohydramnios; Osteoporosis; Pear-shaped nose; Perineal hypospadias; Polycystic ovaries; Premature adrenarche; Proptosis; Radioulnar synostosis; Rocker bottom foot; Scoliosis; Scrotal hypoplasia; Short stature; Small for gestational age; Stenosis of the external auditory canal; Tall stature; Tarsal synostosis; Ulnar bowing; Upper airway obstruction; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistula; Wide anterior fontanelDisorders of Sex Development; Ectodermal Dysplasia
RSPO11p34.3100%gene with protein product609595Autosomal recessive inheritance; Clitoral hypertrophy; Decreased testicular size; Gynecomastia; Hypercholesterolemia; Hypertriglyceridemia; Hypospadias; Laryngeal carcinoma; Nail dystrophy; Orthokeratotic hyperkeratosis; Ovotestis; Palmoplantar hyperhidrosis; Palmoplantar keratoderma; Premature loss of permanent teeth; Sclerodactyly; Sex reversal; Small nail; Squamous cell carcinoma of the skinDisorders of Sex Development; Palmoplantar keratoderma plus congenital ichthyosis
SOX917q24.3100%gene with protein product608160CMD1, CMPD111 pairs of ribs; Abnormal heart morphology; Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the pharynx; Abnormality of the scrotum; Abnormality of the uterus; Absent sternal ossification; Ambiguous genitalia; Anterior tibial bowing; Apnea; Autosomal dominant inheritance; Azoospermia; Bifid scrotum; Blepharophimosis; Cleft palate; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Depressed nasal bridge; Depressed nasal ridge; Disproportionate short-limb short stature; Dysgerminoma; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Femoral bowing; Fibular hypoplasia; Flat face; Generalized hypotonia; Glossoptosis; Gonadal dysgenesis; Gonadoblastoma; Gynecomastia; Hearing impairment; High forehead; Hip dislocation; Hydrocephalus; Hydronephrosis; Hypergonadotropic hypogonadism; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypoplastic cervical vertebrae; Hypoplastic iliac wing; Hypoplastic inferior ilia; Hypoplastic scapulae; Hypospadias; Kyphoscoliosis; Laryngomalacia; Low-set ears; Macrocephaly; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micrognathia; Micropenis; Narrow chest; Neonatal respiratory distress; Neonatal short-limb short stature; Osteoporosis; Polycystic ovaries; Polyhydramnios; Poorly ossified cervical vertebrae; Primary amenorrhea; Proptosis; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Scrotal hypoplasia; Sex reversal; Short neck; Short palpebral fissure; Short stature; Shortening of all phalanges of fingers; Shortening of all phalanges of the toes; Skin dimples; Small abnormally formed scapulae; Small face; Sparse axillary hair; Sparse pubic hair; Streak ovary; Talipes equinovarus; Testicular dysgenesis; Thin ribs; Thoracic hypoplasia; Tibial bowing; Tracheobronchomalacia; True hermaphroditism; Upper airway obstruction; Urogenital sinus anomaly; Vanishing testis; Wide anterior fontanelDisorders of Sex Development; Short-Rib Thoracic Dysplasia
SRYYp11.241%gene with protein product480000Abnormal scrotal rugation; Abnormal sex determination; Abnormality of female external genitalia; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Absence of secondary sex characteristics; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Azoospermia; Bifid scrotum; Bilateral cryptorchidism; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscle hypertrophy of the lower extremities; Osteoporosis; Penoscrotal hypospadias; Polycystic ovaries; Primary amenorrhea; Scrotal hypoplasia; Sex reversal; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tall stature; Testicular dysgenesis; True hermaphroditism; Unilateral cryptorchidism; Urogenital sinus anomaly; Vanishing testis; Y-linked inheritanceDisorders of Sex Development
TALDO111p15.5100%gene with protein product602063Abnormal facial shape; Abnormality of glutamine metabolism; Abnormality of the clitoris; Abnormality of the kidney; Anemia; Asthma; Autosomal recessive inheritance; Cirrhosis; Clitoral hypertrophy; Coarctation of aorta; Decreased liver function; Deep philtrum; Depressed nasal bridge; Failure to thrive; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hydrops fetalis; Increased serum bile acid concentration; Intrauterine growth retardation; Low-set ears; Micronodular cirrhosis; Oligohydramnios; Pancytopenia; Patent ductus arteriosus; Patent foramen ovale; Poor suck; Premature skin wrinkling; Short philtrum; Small for gestational age; Splenomegaly; Synophrys; Telangiectasia; Thin vermilion border; Thrombocytopenia; Triangular face; Ventricular septal defect; Wide anterior fontanel; Wide mouthDisorders of Sex Development; Palmoplantar keratoderma plus congenital ichthyosis
TRAIP3p21.31100%gene with protein product605958Abnormality of dental enamel; Absent earlobe; Ambiguous genitalia; Atrial septal defect; Autosomal recessive inheritance; Cachexia; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphysis; Congenital diaphragmatic hernia; Convex nasal ridge; Craniosynostosis; Decreased fetal movement; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Hip dysplasia; Hypertrichosis; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Polyhydramnios; Prematurely aged appearance; Recurrent urinary tract infections; Reduced number of teeth; Sandal gap; Short stature; Small for gestational age; Sparse scalp hair; Talipes equinovarus; Ventricular septal defect
UBE3B12q24.11100%gene with protein product608047Absent eyebrow; Arachnodactyly; Autosomal recessive inheritance; Bell-shaped thorax; Blepharophimosis; Brachycephaly; Carious teeth; Clinodactyly of the 5th finger; Clitoral hypertrophy; Constipation; Diastema; Epicanthus; Failure to thrive; Feeding difficulties; Flat occiput; Generalized hypotonia; Global developmental delay; Growth delay; High palate; High, narrow palate; Intellectual disability; Laryngeal stridor; Long face; Long foot; Long palm; Metatarsus adductus; Microcephaly; Microcornea; Microdontia; Micrognathia; Muscle flaccidity; Myopia; Narrow face; Narrow palm; Neonatal respiratory distress; Nystagmus; Optic atrophy; Optic disc pallor; Ovoid vertebral bodies; Preauricular skin tag; Ptosis; Respiratory distress; Respiratory failure; Retrognathia; Short nose; Short palpebral fissure; Short philtrum; Single transverse palmar crease; Smooth philtrum; Sparse and thin eyebrow; Specific learning disability; Strabismus; Telecanthus; Thin eyebrow; Thin upper lip vermilion; Thin vermilion border; Upslanted palpebral fissure; Wide mouth
UBR115q15.299.61%gene with protein product605981Abnormal hair pattern; Abnormality of the nail; Abnormality of the vagina; Absent lacrimal punctum; Agenesis of permanent teeth; Alopecia; Anal atresia; Anasarca; Anemia; Anteriorly placed anus; Aplasia cutis congenita of scalp; Atrial septal defect; Autosomal recessive inheritance; Cafe-au-lait spot; Calvarial skull defect; Clinodactyly of the 5th finger; Clitoral hypertrophy; Colonic diverticula; Convex nasal ridge; Cryptorchidism; Death in childhood; Delayed eruption of teeth; Delayed skeletal maturation; Diabetes mellitus; Exocrine pancreatic insufficiency; Failure to thrive; Fair hair; Frontal upsweep of hair; Generalized hypotonia; Hydronephrosis; Hypocalcemia; Hypoplasia of the primary teeth; Hypoplastic nipples; Hypoproteinemia; Hypospadias; Hypothyroidism; Increased circulating very-low-density lipoprotein levels; Intellectual disability; Intrauterine growth retardation; Joint laxity; Lacrimation abnormality; Malabsorption; Microcephaly; Microdontia; Micropenis; Midline skin dimples over anterior/posterior fontanelles; Oligodontia; Rectovaginal fistula; Sensorineural hearing impairment; Septate vagina; Short nose; Short stature; Single transverse palmar crease; Situs inversus totalis; Small for gestational age; Sparse scalp hair; Strabismus; Underdeveloped nasal alae; Urethrovaginal fistula; Ventricular septal defectDisorders of Sex Development; Heterotaxy
VAMP7Xq28 and Yq1100%gene with protein product300053SYBL1Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Micropenis; Osteoporosis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Streak ovary; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development
WT111p13100%gene with protein product607102GUDAbdominal distention; Abdominal pain; Abnormal sex determination; Abnormality of the fallopian tube; Abnormality of the labia; Abnormality of the peritoneum; Abnormality of the scrotum; Abnormality of the vagina; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Aniridia; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the lungs; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Cataract; Childhood onset; Clitoral hypertrophy; Congenital diaphragmatic hernia; Contiguous gene syndrome; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Diffuse mesangial sclerosis; Displacement of the external urethral meatus; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Everted lower lip vermilion; Female external genitalia in individual with 46,XY karyotype; Focal segmental glomerulosclerosis; Glaucoma; Glomerulopathy; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal tissue inappropriate for external genitalia or chromosomal sex; Gonadoblastoma; Gynecomastia; Hearing abnormality; Hepatomegaly; Heterogeneous; Hydrometrocolpos; Hypergonadotropic hypogonadism; Hypertension; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the vagina; Hypoplastic left heart; Hypospadias; Ileus; Increased circulating gonadotropin level; Intellectual disability; Male infertility; Male pseudohermaphroditism; Malignant mesothelioma; Mediastinal lymphadenopathy; Microcephaly; Micrognathia; Micropenis; Nausea and vomiting; Nephroblastoma; Nephropathy; Nephrotic syndrome; Nystagmus; Opacification of the corneal stroma; Optic nerve hypoplasia; Osteoporosis; Ovarian gonadoblastoma; Polycystic ovaries; Primary amenorrhea; Progressive; Proteinuria; Ptosis; Pulmonary sequestration; Renal insufficiency; Sarcoma; Short stature; Somatic mutation; Sparse axillary hair; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vaginal atresia; Vanishing testis; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Nephrotic Syndrome
WWOX16q23.1-q23.100%gene with protein product605131Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the voice; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Cerebellar atrophy; Chest pain; Clinodactyly of the 5th toe; Clitoral hypertrophy; Cough; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysarthria; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Epileptic encephalopathy; Esophageal carcinoma; Feeding difficulties in infancy; Female external genitalia in individual with 46,XY karyotype; Gait ataxia; Gaze-evoked nystagmus; Global developmental delay; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperreflexia; Hypokinesia; Hypoplasia of the vagina; Hyporeflexia; Hypospadias; Intellectual disability; Limb ataxia; Male infertility; Microcephaly; Micropenis; Muscular hypotonia of the trunk; Nausea and vomiting; Osteoporosis; Primary amenorrhea; Progressive microcephaly; Rigidity; Seizures; Sparse axillary hair; Sparse pubic hair; Spasticity; Streak ovary; Urogenital sinus anomaly; Vanishing testis; Variable expressivityDisorders of Sex Development
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


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