Global Variome shared LOVD

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Phenotype #0000229909 Individual ID 00302827 Associated disease NBIA Phenotype details see paper; ..., developmental delay, microcephaly, seizures, stereotypic hand movements Diagnosis/Initial Rett-like syndrome Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 05y (5 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 19:38:58 +02:00 (CEST) Date last edited N/A

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