Phenotype #0000221935

Individual ID 00288198
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details nystagmus, muscular hypotonia, choreoathetosis, hemiparesis, areflexia, muscle weakness, absent speech, failure to thrive, growth delay, dysphagia, developmental regression, aspiration, myopathy, short stature, decreased body weight, cerebral palsy
Inheritance Isolated (sporadic)
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-02-16 14:03:09 +01:00 (CET)
Date last edited N/A

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