XomeDxSlice Tool

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

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Phenotypes
Bifid scrotum

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARXq1299.99%gene with protein productPlease note spinal and bulbar muscular atrophy is associated with a repeat expansion in the AR gene which may not be detected by XomeDxSlice.313700DHTR, SBMAAbnormality of the mouth; Abnormality of the rib cage; Absent axillary hair; Absent facial hair; Absent pubic hair; Absent vas deferens; Adult onset; Aplasia of the uterus; Aplasia/Hypoplasia of the fallopian tube; Azoospermia; Bifid scrotum; Blind vagina; Bulbar palsy; Calf muscle hypertrophy; Cryptorchidism; Decreased fertility; Dysarthria; Dysphagia; Dysphonia; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Elevated serum creatine phosphokinase; Erectile abnormalities; Fasciculations; Female external genitalia in individual with 46,XY karyotype; Female pseudohermaphroditism; Gait disturbance; Gonadal neoplasm; Growth abnormality; Gynecomastia; Hypogonadism; Hyporeflexia; Hypospadias; Infertility; Inguinal hernia; Labial hypoplasia; Limb muscle weakness; Male pseudohermaphroditism; Micropenis; Muscle cramps; Muscular hypotonia; Neoplasm; Nephrolithiasis; Osteoporosis; Perineal hypospadias; Peripheral neuropathy; Primary amenorrhea; Sensory neuropathy; Skeletal muscle atrophy; Slow progression; Sparse axillary hair; Sparse pubic hair; Testicular atrophy; Tremor; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Ectodermal Dysplasia ; Heterotaxy ; Inflammatory Bowel Disease ; Muscular dystropy-dystroglycanopathy (Walker-Warburg); Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis
ARXq1299.99%gene with protein productPlease note spinal and bulbar muscular atrophy is associated with a repeat expansion in the AR gene which may not be detected by XomeDxSlice.313700DHTR, SBMAAbnormality of the mouth; Abnormality of the rib cage; Absent axillary hair; Absent facial hair; Absent pubic hair; Absent vas deferens; Adult onset; Aplasia of the uterus; Aplasia/Hypoplasia of the fallopian tube; Azoospermia; Bifid scrotum; Blind vagina; Bulbar palsy; Calf muscle hypertrophy; Cryptorchidism; Decreased fertility; Dysarthria; Dysphagia; Dysphonia; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Elevated serum creatine phosphokinase; Erectile abnormalities; Fasciculations; Female external genitalia in individual with 46,XY karyotype; Female pseudohermaphroditism; Gait disturbance; Gonadal neoplasm; Growth abnormality; Gynecomastia; Hypogonadism; Hyporeflexia; Hypospadias; Infertility; Inguinal hernia; Labial hypoplasia; Limb muscle weakness; Male pseudohermaphroditism; Micropenis; Muscle cramps; Muscular hypotonia; Neoplasm; Nephrolithiasis; Osteoporosis; Perineal hypospadias; Peripheral neuropathy; Primary amenorrhea; Sensory neuropathy; Skeletal muscle atrophy; Slow progression; Sparse axillary hair; Sparse pubic hair; Testicular atrophy; Tremor; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Ectodermal Dysplasia ; Heterotaxy ; Inflammatory Bowel Disease ; Muscular dystropy-dystroglycanopathy (Walker-Warburg); Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis
BUB1B15q15.1100%gene with protein product602860Abnormality of vision; Agenesis of corpus callosum; Ambiguous genitalia; Anteverted nares; Ascites; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral hypoplasia; Cleft palate; Combined immunodeficiency; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Epicanthus; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Glaucoma; Global developmental delay; Hereditary nonpolyposis colorectal carcinoma; High forehead; Hydrocephalus; Hypertelorism; Hypodysplasia of the corpus callosum; Hypospadias; Increased nuchal translucency; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Leukemia; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Muscular dystrophy; Neoplasm of the stomach; Nephroblastoma; Nystagmus; Oligohydramnios; Phenotypic variability; Polyhydramnios; Posteriorly rotated ears; Postnatal growth retardation; Premature chromatid separation; Renal cell carcinoma; Renal cyst; Rhabdomyosarcoma; Severe global developmental delay; Short neck; Short nose; Short stature; Short sternum; Small for gestational age; Transitional cell carcinoma of the bladder; Triangular face; Triangular mouth; Upslanted palpebral fissure; Uterine leiomyosarcoma; Ventriculomegaly; Wide nose
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
COLEC108q24.12100%gene with protein product607620Abnormal anterior chamber morphology; Abnormality of the pinna; Autosomal recessive inheritance; Bifid scrotum; Bilateral cryptorchidism; Blepharophimosis; Cleft palate; Cleft upper lip; Clinodactyly; Craniosynostosis; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Facial cleft; Hearing impairment; Highly arched eyebrow; Hyperlordosis; Hypertelorism; Intellectual disability; Large fleshy ears; Limited pronation/supination of forearm; Micropenis; Oral cleft; Penoscrotal hypospadias; Postnatal growth retardation; Preaxial polydactyly; Ptosis; Radioulnar synostosis; Scoliosis; Short stature; Spina bifida occulta; Supernumerary nipple; Telecanthus
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
FAT44q28.1100%gene with protein product612411Abnormality of dental morphology; Ascites; Atresia of the external auditory canal; Autosomal recessive inheritance; Bifid scrotum; Blepharophimosis; Broad forehead; Clinodactyly; Conductive hearing impairment; Congenital onset; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Dental malocclusion; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Erysipelas; External ear malformation; Feeding difficulties; Flat face; Generalized hypotonia; Gingival overgrowth; Glaucoma; Growth delay; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypospadias; Increased number of teeth; Intellectual disability; Irregular dentition; Joint laxity; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Micrognathia; Micropenis; Microtia; Midface retrusion; Mild postnatal growth retardation; Narrow chest; Narrow forehead; Osteopenia; Pericardial lymphangiectasia; Ptosis; Pulmonary lymphangiectasia; Recurrent respiratory infections; Reduced number of teeth; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Short 4th metacarpal; Short clavicles; Short fourth metatarsal; Short palpebral fissure; Skeletal dysplasia; Splenomegaly; Talipes equinovarus; Tented upper lip vermilion; Tracheomalacia; Wide anterior fontanel; Wide cranial sutures; Wide nasal bridgeDisorders of Sex Development
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
FZD217q21.31100%gene with protein product600667Anteverted nares; Bifid scrotum; Bifid tongue; Brachydactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Curly eyelashes; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Epicanthus; Euryblepharon; Frontal bossing; Gingival overgrowth; Hemivertebrae; High, narrow palate; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Malar flattening; Median cleft lip and palate; Micrognathia; Micromelia; Midface retrusion; Open bite; Pectus excavatum; Prominent forehead; Proptosis; Retrognathia; Rhizomelia; Severe short stature; Short 1st metacarpal; Short humerus; Short nose; Short palm; Umbilical hernia; Upslanted palpebral fissure; Wide nasal bridge; Wide nose
HOXA137p15.299.57%gene with protein product142959HOX1J, HOX1Abnormal dermatoglyphics; Autosomal dominant inheritance; Bicornuate uterus; Bifid scrotum; Brachydactyly; Chordee; Clinodactyly of the 5th finger; Delayed ossification of carpal bones; Delayed tarsal ossification; Glandular hypospadias; Hallux varus; Hypoplastic fifth toenail; Hypospadias; Longitudinal vaginal septum; Micropenis; Postaxial hand polydactyly; Proximal placement of thumb; Pseudoepiphyses; Recurrent urinary tract infections; Renal insufficiency; Short 1st metacarpal; Short 2nd toe; Short 5th finger; Short distal phalanx of finger; Short first metatarsal; Short hallux; Shortening of all middle phalanges of the fingers; Small thenar eminence; Synostosis of carpal bones; Ulnar deviation of the 2nd finger; Ureteropelvic junction obstruction; Uterus didelphys; Vesicoureteral refluxDisorders 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
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
IRF61q32.2100%gene with protein product607199VWS, LPSAbnormality of the nail; Abnormality of the ribs; Ankyloblepharon; Autosomal dominant inheritance; Bifid scrotum; Bifid uvula; Cleft palate; Cleft upper lip; Cryptorchidism; Cutaneous finger syndactyly; Dementia; Fibrous syngnathia; Finger syndactyly; Generalized hirsutism; Hypodontia; Hypoplasia of the maxilla; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Intercrural pterygium; Joint stiffness; Lip pit; Lower lip pit; Microdontia; Micrognathia; Non-midline cleft lip; Nonketotic hyperglycinemia; Oligodontia; Popliteal pterygium; Pyramidal skinfold extending from the base to the top of the nails; Scoliosis; Scrotal hypoplasia; Spina bifida occulta; Talipes equinovarus; Thin upper lip vermilion; Toe syndactylyDisorders of Sex Development
IRF61q32.2100%gene with protein product607199VWS, LPSAbnormality of the nail; Abnormality of the ribs; Ankyloblepharon; Autosomal dominant inheritance; Bifid scrotum; Bifid uvula; Cleft palate; Cleft upper lip; Cryptorchidism; Cutaneous finger syndactyly; Dementia; Fibrous syngnathia; Finger syndactyly; Generalized hirsutism; Hypodontia; Hypoplasia of the maxilla; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Intercrural pterygium; Joint stiffness; Lip pit; Lower lip pit; Microdontia; Micrognathia; Non-midline cleft lip; Nonketotic hyperglycinemia; Oligodontia; Popliteal pterygium; Pyramidal skinfold extending from the base to the top of the nails; Scoliosis; Scrotal hypoplasia; Spina bifida occulta; Talipes equinovarus; Thin upper lip vermilion; Toe syndactylyDisorders 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
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
SALL116q12.1100%gene with protein product602218TBS2-3 toe syndactyly; 3-4 finger syndactyly; 3-4 toe syndactyly; Anal atresia; Anal stenosis; Anteriorly placed anus; Aplasia/Hypoplasia of the 3rd toe; Autosomal dominant inheritance; Bifid scrotum; Bifid uterus; Broad thumb; Chorioretinal coloboma; Clinodactyly of the 5th finger; Constipation; Cryptorchidism; Duodenal atresia; External ear malformation; Gastroesophageal reflux; Hearing impairment; Hypospadias; Hypothyroidism; Intellectual disability; Macrotia; Metatarsal synostosis; Microcephaly; Microtia; Overfolded helix; Overfolding of the superior helices; Partial duplication of thumb phalanx; Pes planus; Preauricular skin tag; Preaxial hand polydactyly; Pseudoepiphyses of second metacarpal; Rectoperineal fistula; Rectovaginal fistula; Renal insufficiency; Satyr ear; Short metatarsal; Stahl ear; Subcutaneous nodule; Tetralogy of Fallot; Toe clinodactyly; Triphalangeal thumb; Umbilical hernia; Urethral valve; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; VACTERL Association
SEMA3E7q21.11100%gene with protein product608166SEMAHAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormality of female internal genitalia; Abnormality of the soft palate; Anophthalmia; Anosmia; Anterior hypopituitarism; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Choanal atresia; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Depressed nasal bridge; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Duodenal atresia; Dysphagia; Esophageal atresia; External ear malformation; Facial asymmetry; Facial palsy; Feeding difficulties; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the semicircular canal; Hypothyroidism; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphopenia; Malar flattening; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Ptosis; Pulmonic stenosis; Short stature; Sparse axillary hair; Sparse pubic hair; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Umbilical hernia; Ventricular septal defect
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
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development
SRD5A22p23.1100%gene with protein product607306Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the hair; Abnormality of the voice; Ambiguous genitalia, male; Autosomal recessive inheritance; Bifid scrotum; Cryptorchidism; Decreased fertility; Hypoplasia of penis; Micropenis; Perineal hypospadias; Phenotypic variability; Scrotal hypoplasia; Urogenital sinus anomalyDisorders of Sex Development
SRD5A22p23.1100%gene with protein product607306Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the hair; Abnormality of the voice; Ambiguous genitalia, male; Autosomal recessive inheritance; Bifid scrotum; Cryptorchidism; Decreased fertility; Hypoplasia of penis; Micropenis; Perineal hypospadias; Phenotypic variability; Scrotal hypoplasia; Urogenital sinus anomalyDisorders of Sex Development
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


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-AlportAlport Syndrome
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-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome