Global Variome shared LOVD

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Phenotype #0000233369 Individual ID 00307946 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., Intellectual disability, Microcephaly, Sloping forehead, Prominent nose, Pachygyria, Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Arnold-Chiari type I malformation Age/Examination 11y (11 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 2020-08-23 13:31:08 +02:00 (CEST) Date last edited N/A

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