Phenotype #0000268945

Individual ID 00373720
Associated disease PDHAD
Phenotype details HP:0001252; HP:0001250; HP:0025336; HP:0032989; HP:0001270; HP:0012766
Diagnosis/Initial -
Inheritance Familial, X-linked dominant
Diagnosis/Definite Pyruvate dehydrogenase E1-alpha deficiency (OMIM 312170)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Date created 2021-05-19 07:42:33 +02:00 (CEST)
Date last edited 2021-05-28 13:24:06 +02:00 (CEST)

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