Phenotype #0000041530

Individual ID 00054866
Associated disease SPAX4
Phenotype details ataxia, myoclonus, dystonia, epilepsy, high CK
Diagnosis/Initial cerebellar ataxia
Inheritance Familial, autosomal recessive
Diagnosis/Definite EPM6
Age/Examination -
Age/Diagnosis -
Age/Onset 02y
Phenotype/Onset -
Protein -
Owner name Erik-Jan Kamsteeg
Database submission license No license selected
Created by Erik-Jan Kamsteeg