Global Variome shared LOVD

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

Phenotype #0000179978 Individual ID 00239764 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; MRI brain microcephaly with simplified gyral pattern, near complete agenesis corpus callosum with colpocephaly, mild brain atrophy; severe intellectual disability (HP:0010864); speech delay (HP:0000750) Age/Examination 20y (20 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 2019-06-07 23:15:01 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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