Global Variome shared LOVD

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Phenotype #0000207627 Individual ID 00269836 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., microcephaly (0 SD birth, -5.5 SD 1y6m), signs of cerebral palsy, no speech, nonambulant; focal seizures; severe brain atrophy Age/Examination 01y06m (1 year, 6 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 14:31:58 +01:00 (CET)

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