Global Variome shared LOVD

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Phenotype #0000268918 Individual ID 00373644 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour; neonatal hypotonia; inattention, distractibility; no blindness Age/Examination 40y (40 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 2021-05-17 13:51:11 +02:00 (CEST) Date last edited N/A

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