Disease #05184 (SRXX2 (46,XX sex reversal, type 2 (SRXX-2)), OMIM:278850)

Official abbreviation SRXX2
Name 46,XX sex reversal, type 2 (SRXX-2)
OMIM ID 278850
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SOX9
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Individuals

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00081220 - PubMed: Cox 2011, Journal: Cox 2011 4-generation family, 4 carriers M no United Kingdom (Great Britain) - - 0 - - SRXX2 family, 46,XX testicular disorder of sex development; 1 male (4 children, 2 carrier sons) and 3 adult males (two brothers, paternal uncle) female karyotype (46,XX) and negative for SRY gene. - SOX9 1 4 Johan den Dunnen
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