Phenotype #0000235172

Individual ID 00309857
Associated disease ACADMD
Phenotype details see paper; ...
Diagnosis/Initial MCAD deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite ACADMD
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