Global Variome shared LOVD

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Phenotype #0000015347 Individual ID 00016988 Associated disease MRX;IDX Phenotype details see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (2.5th); open mouth, drooling; swallowing difficulty; ECG epileptiform activity, background frequency 1.5-3 Hz Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Lucy Raymond Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-10-28 15:09:48 +01:00 (CET) Date last edited 2025-03-14 19:29:36 +01:00 (CET)

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