46 XY differences of sex development

Findings

No curated finding names 46 XY differences of sex development yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disorder of sexual differentiation

Narrower terms (24)

• 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
• 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
• 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
• 46,XY ovotesticular disorder of sex development
• 46,XY partial gonadal dysgenesis
• alpha thalassemia-X-linked intellectual disability syndrome
• androgen insensitivity syndrome
• chondrodysplasia-pseudohermaphroditism syndrome
• Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
• Denys-Drash syndrome
• disorder of sex development-intellectual disability syndrome
• distal monosomy 9p
• dysmorphism-short stature-deafness-disorder of sex development syndrome
• familial adrenal hypoplasia with absent pituitary luteinizing hormone

Resolves to: 46 XY differences of sex development

Also called

46, XY disorder of sexual development46, XY DSD46,XY disorder of sex development46,XY disorders of Sex development46,XY DSD