Global Variome shared LOVD

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Phenotype #0000229910 Individual ID 00302828 Associated disease NBIA Phenotype details see paper; ..., early childhood global developmental delay, frequently sucked hand; 6m-febrile convulsion, no history of epilepsy; delay in language development more severe than delay in motor development; able to dress, walk unaided, follow simple instructions until adolescence; after 20y movement ability rapidly declined; 42y-bedridden, unable to communicateMRI brain 21y-no abnormality except non-specific cerebral atrophy, 39y-abnormalities globus pallidus and substantia nigra, with neurodegeneration and iron accumulation brain Diagnosis/Initial Rett-like syndrome Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 42y (42 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-01 19:49:49 +02:00 (CEST) Date last edited N/A

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