Global Variome shared LOVD

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Phenotype #0000207631 Individual ID 00269840 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., microcephaly (-0.5 SD 4y10m); speech few words, walk with support; myoclonic status epilepticus; hemihypertrophy, frontal dysgyria Age/Examination 04y10m (4 years, 10 months) 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 2019-12-07 13:20:49 +01:00 (CET) Date last edited 2019-12-07 14:39:02 +01:00 (CET)

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