Phenotype #0000340189

Individual ID 00451440
Associated disease MTDPS9
Phenotype details Short stature, low weight, intellectual disability, developmental regression, organic aciduria
Diagnosis/Initial Multiple carboxylase deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Age/Examination 11y03m (11 years, 3 months)
Age/Diagnosis 12y02m
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 01:22:15 +02:00 (CEST)
Date last edited 2024-06-04 13:53:51 +02:00 (CEST)

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