Global Variome shared LOVD

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Phenotype #0000337076 Individual ID 00447884 Associated disease SCA Phenotype details delayed motor development, delayed language skills; 1y-vertical nystagmus, upper limb tremor; 2y-severe ataxia, inability to walk/sit unaided, triggered by febrile illness, regained previous neurological status after 1w, episodes recurred twice a year; 6.3y-nystagmus, discrete upper limb postural/action tremor, coordination difficulties, mild learning difficulties, benefited from language rehabilitation; very smiley, communicative with peers Diagnosis/Initial ataxia Inheritance Unknown Diagnosis/Definite SCA27A Age/Examination 06y04m (6 years, 4 months) Age/Diagnosis - 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 2024-01-31 09:11:57 +01:00 (CET) Date last edited N/A

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