Phenotype #0000331322

Individual ID 00441939
Associated disease ?
Diagnosis/Initial general muscle weakness, hypotonia, ataxia
Diagnosis/Definite -
Phenotype details see paper (Skorvanek); ..., ataxia; spasticity, hypotonia; seizures; intellectual disability; growth retardation; congenital atrial septum defect, strabismus, visual impairment, weakness, severe obstipation, sleep problems
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset <1y
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 2023-11-15 14:04:23 +01:00 (CET)
Date last edited N/A

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