Phenotype #0000028259

Individual ID 00037743
Associated disease SCAR17
Phenotype details see paper; hypotonia, developmental delay, mental retardation, non-
progressive truncal and extremity ataxia; MRI demonstrated hypoplasia vermis and cerebellar hemispheres; ...
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
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 2015-05-01 18:40:56 +02:00 (CEST)
Date last edited N/A

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