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 InternationalCreative Commons License
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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