Phenotype #0000331958

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00442611
Associated disease	MD
Phenotype details	see paper; ..., muscular dystrophy, autism spectrum disorder, diastolic dysfunction, developmental delay, seizures, sensorineural hearing loss; 11m-developmental delay, motor delay
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	DMD;DFNX2
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	00y03m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-22 17:03:21 +01:00 (CET)
Date last edited	N/A

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