Global Variome shared LOVD

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Phenotype #0000325285 Individual ID 00435048 Associated disease NDD Diagnosis/Initial NDD Diagnosis/Definite - Phenotype details see paper; ..., 18y-deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain progressive cerebral atrophy, gyral semplification, pontocerebellar atrophy; hypotonia; seizures; microcephaly; optic atrophy; intra-uterine growth retardation; no facial dysmorphisms Inheritance Familial, autosomal recessive Age/Examination 18y (18 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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