Phenotype #0000104337

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00132143
Associated disease	MCPH5
Phenotype details	OFC (SD-7.2), length (SD-3.7), weight (SD-1.9); no epilepsy; 7y-Stanford Binet DQ56; MRI brain 7y-gyral simplification, mild ventricular enlargement, thin corpus callosum and brainstem
Diagnosis/Initial	microcephaly
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MCPH5
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Nathalie Pouvreau
Database submission license	No license selected
Created by	Nathalie Pouvreau
Date created	2017-10-24 08:45:50 +02:00 (CEST)
Date last edited	2023-03-07 17:29:27 +01:00 (CET)

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