Phenotype #0000044549

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057250
Associated disease	MCPH5
Phenotype details	brain magnetic resonance imaging: not available; additional clinical featuresmild intellectual disability, seizures, behavioural problems (brother with intellectual disability and microcephaly)
Diagnosis/Initial	microcephaly
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MCPH5
Age/Examination	31y (31 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 10:43:28 +01:00 (CET)
Date last edited	2023-03-07 18:26:14 +01:00 (CET)

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