Disease #02033 (PPSH (hypospadias, perineoscrotal, pseudovaginal (PPSH)), OMIM:264600)

Official abbreviation PPSH
Name hypospadias, perineoscrotal, pseudovaginal (PPSH)
OMIM ID 264600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SRD5A2
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00181096 - - - - - - - - - - - PPSH - SRD5A2 SRD5A2 1 1 Mahboubeh Rafigh
00380579 183442 - - M likely India - - - - - PPSH Ambiguous genitalia, male, Scrotal hypoplasia, Hypoplastic male external genitalia, Abnormal external genitalia, External genital hypoplasia, Hypoplasia of penis, Abnormal reproductive system morphology, Family history (2 maternal uncles affected) SRD5A2 SRD5A2 1 1 Andreas Laner
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