Global Variome shared LOVD

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Phenotype #0000357430 Individual ID 00472634 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., 4y-walk, 4y-gait ataxia; early childhood wheelchair used; saccadic pursuit, oculomotor apraxia; attention deficit hyperactivity disorder, verbal IQ79, performance IQ45; epilepsy, staring spells, atonic spells, tonic-clonic seizures on awakening; no blindness; no dysmorphic features; MRI brain atrophy of cerebellar vermis; nerve conduction studies normal, except low sural SNAP for age, EMG mild neurogenic findings 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 2026-02-24 15:14:51 +01:00 (CET) Date last edited N/A

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