Phenotype #0000044554

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057267
Associated disease	MCPH5
Phenotype details	microcephaly; brain magnetic resonance imaging: simplified gyral pattern; additional clinical featuresseizures, behavioural problems, short stature, obesity, severe intellectual disability
Diagnosis/Initial	microcephaly
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MCPH5
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Birgit Sikkema-Raddatz
Database submission license	No license selected
Created by	Birgit Sikkema-Raddatz
Date created	2016-01-25 10:57:36 +01:00 (CET)
Date last edited	2023-03-07 18:29:33 +01:00 (CET)

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