Global Variome shared LOVD

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Phenotype #0000231758 Individual ID 00305911 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details no dysmorphisms; 5-6y-onset motor regression; 10y-lack of speech; 5y-stumbling and difficulty with ambulation, 10y-unable to walk unsupported; 7y-loss of skills started, 13y-severe contractures with inability to use hands; 8y-drooling, 10y-feeding problems and progressive dysphagia; 13y-G-tube dependent, 10y-lost continence; 6y-ataxic gait; 7y-nystagmus, 11y-dysconjugate gaze; 7y-increased deep tendon reflexes; dysarthria, spasticity, cerebellar signs (dysmetria, slow heel to shin, broad stance), 7y-positive Romberg and Babinksi; 20y-Vineland 3rd edition with significant delays across domains; epilepsy, 10y-myoclonus; EEG 13y-normal; MRI brain 7y-normal, 13y-diffuse cerebral atrophy, 20y-severe cerebral volume loss Inheritance Isolated (sporadic) Age/Examination 20y (20 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 2020-07-05 16:07:27 +02:00 (CEST) Date last edited 2020-07-06 09:38:36 +02:00 (CEST)

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