Global Variome shared LOVD

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

Phenotype #0000323989 Individual ID 00433546 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details microcephaly; sociable, low frustration tolerance, aggressive tantrums, hyperactive, occasional, self-injurious behavior, 19m-walked; says meaningful sentences, can relate experiences, can name few objects; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter Inheritance Familial, autosomal recessive Age/Examination 08y (8 years) 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 2023-03-11 20:02:33 +01:00 (CET) Date last edited 2023-03-11 20:06:32 +01:00 (CET)

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