Global Variome shared LOVD

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Phenotype #0000348362 Individual ID 00460681 Associated disease DSD Diagnosis/Initial disorders of sex development Diagnosis/Definite SRXY2;DMD Phenotype details see paper; ..., birth-abnormal external genitalia (46,XY); supplemented with mixed feeding (insufficient breast milk); birth 37+4, 5m-height 60cm [−3.06 SD], weight 6.5kg (−1.47 SD), OFC 41cm (−1.50 SD), skin pigmentation not deepened, normal muscle strength/tone; specific facial features (thin upper lip, low-set ears, delayed developmental milestones, instability in head control; ambiguous external genitalia, 0.5 cm penis, urethral opening in perineum, split scrotum resembling labia majora, testicles found in inguinal region, cryptorchidism, hypospadias; elevated creatine kinase (13,024 U/L); short stature; muscular dystrophy Inheritance Unknown Age/Examination 00y05m (5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-29 12:33:03 +01:00 (CET) Date last edited 2025-01-29 13:09:11 +01:00 (CET)

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