Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000044549 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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