Phenotype #0000353177

Individual ID 00468025
Associated disease SCA
Phenotype details see paper; ..., slowly progressive cerebellar atrophy; 5m-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; mild intellectual disability, speech two-word sentences; 1y4m-head control; 4y2m-sit; 3y7m-stand with support; no walk; MRI brain atrophy (superior dominant), vermis anterior dominant, brainstem atrophy pontine tegmentum, normal  cerebrum; no deterioration
Diagnosis/Initial childhood-onset cerebellar ataxia
Inheritance Isolated (sporadic)
Diagnosis/Definite SCA29
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset 5m
Phenotype/Onset gaze-evoked nystagmus
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 2025-11-06 16:42:01 +01:00 (CET)
Date last edited N/A

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