Global Variome shared LOVD

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Phenotype #0000207624 Individual ID 00269833 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., microcephaly (-2 SD birth, -4 SD 13y), signs of cerebral palsy, no speech, nonambulant; no seizures; pachygyria Age/Examination 13y (13 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 2019-12-07 13:20:49 +01:00 (CET) Date last edited 2019-12-07 14:28:19 +01:00 (CET)

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