Global Variome shared LOVD

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Phenotype #0000325289 Individual ID 00435052 Associated disease NDD Diagnosis/Initial NDD Diagnosis/Definite - Phenotype details see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain mild to moderate cerebellar atrophy; ; no seizures; no microcephaly; mild optic atrophy; no prenatal findings; no facial dysmorphisms Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-05-05 15:10:52 +02:00 (CEST) Date last edited N/A

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