Phenotype #0000340300

Individual ID 00451639
Associated disease HMGCLD
Phenotype details Metabolic acidosis, cholestasis, steatosis. Lynch Syndrome
Diagnosis/Initial 3-Methylglutaric aciduria
Inheritance Familial, autosomal recessive
Diagnosis/Definite HMG-CoA lyase deficiency
Age/Examination -
Age/Diagnosis 04y06m
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 2024-06-18 03:14:03 +02:00 (CEST)
Date last edited 2024-06-18 16:06:20 +02:00 (CEST)

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