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Items: 3

1.

STEROID 5-ALPHA-REDUCTASE POLYMORPHISM

MedGen UID:
865516
Concept ID:
C4017079
Finding
2.

Micropenis

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. [from HPO]

MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
3.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. [from OMIM]

MedGen UID:
75667
Concept ID:
C0268297
Disease or Syndrome
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