Global Variome shared LOVD

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Phenotype #0000304778 Individual ID 00412787 Associated disease SCAR17 Phenotype details Global developmental delay, Cerebellar hypoplasia, Dandy-Walker malformation, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia involving the central nervous system, Intellectual disability, Poor fine motor coordination, Delayed gross motor development, Facial grimacing, Bradyphrenia, Behavioral abnormality, Attention deficit hyperactivity disorder Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-07-04 15:51:43 +02:00 (CEST) Date last edited 2022-11-14 16:12:05 +01:00 (CET)

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