Global Variome shared LOVD

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Phenotype #0000342016 Individual ID 00453353 Associated disease autism Inheritance Familial, autosomal recessive Diagnosis/Initial syndromic autism, global developmental delay, intellectual disability, muscular dystrophy Age/Examination 04y (4 years) Diagnosis/Definite MDCMC Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details developmental delay, intellectual disability, learning disability, autism, no epilepsy, language/speech delay, no ADHD, repetitive movement and behavior, muscular dystrophy, hypotonia, abnormal gait, no obesity, no acrophobia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-08-19 11:03:41 +02:00 (CEST) Date last edited 2024-08-19 12:09:36 +02:00 (CEST)

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