Phenotype #0000104280

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00132089
Associated disease	MCPH5
Phenotype details	birth OFC (SD-3.8), length (SD-1.5), weight (SD-0.9); OFC (SD-7.5), length (SD-2.5), weight (SD-2.8); <18m-no walk; no epilepsy; MRI brain 0.5y-gyral simplification; behavioral disorders
Diagnosis/Initial	microcephaly
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MCPH5
Age/Examination	1.7y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Nathalie Pouvreau
Database submission license	No license selected
Created by	Nathalie Pouvreau
Date created	2017-10-23 14:21:18 +02:00 (CEST)
Date last edited	2023-03-07 17:07:08 +01:00 (CET)

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