Global Variome shared LOVD

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Phenotype #0000229891 Individual ID 00302809 Associated disease NBIA Phenotype details see paper; ..., severe global developmental delay in early infancy, expressive speech disorder, generalized seizures, hypertonia, secondary worsening, 27y-progressive gait disturbance, MRI brain hypointensities of globus pallidus in T2-weighed Diagnosis/Initial global developmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite NBIA5 Age/Examination 83y (83 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 11:51:13 +02:00 (CEST) Date last edited N/A

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