Phenotype #0000288014

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00394814
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRXSR
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., global developmental delay, no facial dysmorphism, no skeletal abnormalities, hypotonia
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y04m
Phenotype/Onset	congenital hypotonia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-02 12:52:35 +01:00 (CET)
Date last edited	N/A

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