Phenotype #0000171911

Individual ID 00227868
Associated disease SRXY
Phenotype details see paper; …, gonadal dysgenesis, normal adrenal function, low basal levels of AMH/testosterone (T), weak T response to hCG, hypoplastic testes with abundant seminiferous tubules, rare germ cells
Diagnosis/Initial 46,XY sex reversal
Inheritance Isolated (sporadic)
Diagnosis/Definite SRXY-3
Age/Examination -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-03-14 08:19:34 +01:00 (CET)
Date last edited 2019-03-15 09:18:20 +01:00 (CET)

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