Global Variome shared LOVD

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Phenotype #0000347521 Individual ID 00459447 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., dysphagia; secondary microcephaly; severe intellectual disability; delayed speech; delayed motor development, 35m-walk; progressive spasticity predominantly lower extremities; ataxic gait, intention tremor; peripheral neuropathy; 3y-4y-myoclonic seizures; normal vision; no hearing impairment; 10y-neuroimaging cerebral atrophy (detailed in paper) Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 0d 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 2025-01-04 12:10:18 +01:00 (CET) Date last edited N/A

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