XomeDxSlice Tool

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



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


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Gonadal dysgenesis with female appearance, male

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DHH12q13.12100%gene with protein product605423Abnormal peripheral myelination; Abnormality of female external genitalia; Abnormality of peripheral nerve conduction; Abnormality of the epididymis; Abnormality of the vagina; Autosomal recessive inheritance; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum testosterone level; Distal muscle weakness; Distal sensory loss of all modalities; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal dysgenesis, male; Gonadoblastoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Increased circulating gonadotropin level; Infertility; Male hypogonadism; Male pseudohermaphroditism; Polycystic ovaries; Polyneuropathy; Primary amenorrhea; Reduced tendon reflexes; Sensorimotor neuropathy; Sensory ataxic neuropathy; Sex reversal; Skeletal muscle atrophy; Streak ovary; Testicular dysgenesisDisorders 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

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.


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-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-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome