Phenotype #0000309732

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00418363
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRXS34
Inheritance	Familial, X-linked recessive
Phenotype details	see paper; ..., developmental delay, relative macrocephaly, dilated cardiomyopathy with LVNC and Ebstein anomaly.; MRI brain thick corpus callosum, mild Chiari I malformation, flattened pituitary
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-09-28 20:45:04 +02:00 (CEST)
Date last edited	N/A

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