Global Variome shared LOVD

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Phenotype #0000231757 Individual ID 00305910 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details 15y-deceased; no dysmorphisms; 5-6y-onset motor regression; speech meeting milestones initially, 7y-dysarthria, 12y-loss of speech; met early gross motor skills milestones, 4m-rolled over, 5m-sit,, 10m-walk, always toe walked; 5y-developing spasticity, 5y-loss of gross motor skills, 9y-wheelchair-bound; 5y-loss of fine motor skills; 10y-dysphagia; 10y-G-tube fed; dystonia present, no ataxia; 11y-dysconjugate gaze; sustained clonus; axial hypotonia, progressive with loss of head control; Babinski present bilaterally; no intellectual disability, cognition appeared intact throughout; epilepsy, no clear clinical seizures but ‘staring spells’ that resolved with Lamictal; EEG 9y/13y-mild background slowing; EEG 9y/1y-normal; MRI brain 8y-‘Bulky’ corpus callosum, mild cerebellar volume loss, large left middle cranial fossa arachnoid cyst, 10y-marked cord thinning on spine Inheritance Unknown 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 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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