Phenotype #0000340192

Individual ID 00451445
Associated disease HMGCLD
Phenotype details Acanthosis nigricans, frontal bossing, bradydactyly
Diagnosis/Initial Aciduria
Inheritance Familial, autosomal recessive
Diagnosis/Definite HMG-CoA lyase deficiency
Age/Examination -
Age/Diagnosis 05y09m
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2024-06-04 23:23:41 +02:00 (CEST)
Date last edited 2024-06-05 09:32:57 +02:00 (CEST)

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