Global Variome shared LOVD

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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 International 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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