Global Variome shared LOVD

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Phenotype #0000325295 Individual ID 00435058 Associated disease NDD Diagnosis/Initial NDD Diagnosis/Definite - Phenotype details see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain 9y-progressive cerebellar atrophy, milder pontine volume loss, diffuse white matter signal changes; hypotonia; one seizure; no microcephaly; retinal dystrophy; also hypermetropia; prenatal 33w-gestational diabetes, premature; no facial dysmorphisms Inheritance Familial, autosomal recessive Age/Examination 17y (17 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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