Phenotype #0000324332

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00433954
Associated disease	microcephaly
Diagnosis/Initial	microcephaly
Diagnosis/Definite	MCPH5
Phenotype details	microcephaly, OFC SD-9; severe intellectual disability, high frustration level, no self care skills, only able to speak few words and can make short sentences, no seizures, normal motor skills, normal height
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-16 11:51:24 +01:00 (CET)
Date last edited	2023-03-16 12:59:56 +01:00 (CET)

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