Phenotype #0000235279

Individual ID 00309962
Associated disease PBD
Phenotype details see paper; ...
Diagnosis/Initial infantile Refsum disease
Inheritance Familial, autosomal recessive
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