Phenotype #0000340120

Individual ID 00451363
Associated disease IVA
Inheritance Familial, autosomal recessive
Phenotype details Moderate intellectual disability, seizures, Mongolian blue spot
Diagnosis/Initial Isovaleric acidemia
Age/Examination -
Diagnosis/Definite Isovaleric acidemia
Age/Diagnosis 04y01m
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 2024-05-31 19:45:19 +02:00 (CEST)
Date last edited 2024-06-04 14:01:31 +02:00 (CEST)

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