Phenotype #0000353175

Individual ID	00468023
Associated disease	SCA
Phenotype details	see paper; ..., slowly progressive cerebellar atrophy; 1d-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 three-word sentences; 3m-head control; 2y-sit; 3y-stand with support; 6y-walk (unstable); 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	9y (9 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	vertical nystagmus
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-06 16:42:01 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD