Global Variome shared LOVD

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Phenotype #0000331285 Individual ID 00441896 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite XLID111 Phenotype details see paper; ..., height <−5 SDS; feeding difficulties, gastric tube feeding; kyphoscoliosis; developmental delay, normal before regression; speech regression; severe intellectual disability; 10y-seizures, multifocal, prominent in left central region; spasticity; unsteady gait, 21y-wheelchair-bound; no neuropsychiatric manifestations; MRI brain severe cerebral and cerebellar volume loss, ventricle dilation, atrophy of corpus callosum and brainstem, bilateral hippocampal atrophy with increased FLAIR signal Inheritance Familial, X-linked Age/Examination 21y (21 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 2023-11-14 19:43:56 +01:00 (CET) Date last edited N/A

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