Global Variome shared LOVD

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Phenotype #0000358872 Individual ID 00474072 Associated disease NDD Diagnosis/Initial global developmental delay, ataxia Diagnosis/Definite - Phenotype details see paper; .... microcephaly; severe developmental delay/intellectual disability; seizures; optic atrophy; no musculoskeletal abnormalities; motor impairment; MRI brain diffuse atrophy; ataxia; hypotonia; language problem; sibling with similar presentation 16m-deceased Inheritance Familial, autosomal recessive Age/Examination 15y (15 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 2026-03-10 13:44:25 +01:00 (CET) Date last edited 2026-03-10 14:14:38 +01:00 (CET)

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