Global Variome shared LOVD

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Phenotype #0000324325 Individual ID 00433947 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH1 Phenotype details microcephaly, OFC SD-6 to -7; mild mental retardation, self-care skills, socially active and friendly behavior, no limb and digital malformations, normal height and weight, normal motor skills, EEG MCP118-6 showed generalized sharp spike wave complex only on one occasion Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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