Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000230171 Individual ID 00303087 Associated disease HSD10MD Inheritance Familial, X-linked recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite HSD10D Age/Onset 00y19m Phenotype/Onset transient episode of dystonia/ataxia Phenotype details 19m-transient episode of dystonia/ataxia, MRI brain normal, no cardiac abnormalities, no ophthalmological abnormalities; over time dystonic episodes gradually diminished in frequency and duration Enzyme/Activity - Protein - Age/Diagnosis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-05 18:50:24 +02:00 (CEST) Date last edited N/A

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