Phenotype #0000353153

Individual ID 00468001
Associated disease ataxia
Diagnosis/Initial ataxic cerebral palsy
Diagnosis/Definite SCA5
Phenotype details see paper; ..., birth at term, 1 previous miscarriages; ataxia, intellectual disability; no clinical regression; moderate intellectual disability; MRI brain mild cerebellar hypoplasia/atrophy
Inheritance Isolated (sporadic)
Age/Examination 05y (5 years)
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 2025-11-05 19:10:23 +01:00 (CET)
Date last edited 2025-11-05 19:13:05 +01:00 (CET)

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