Disease #01887 (MTDPS9 (mitochondrial DNA depletion syndrome, type 9 (MTDPS-9, encephalomyopathic with methylmalonic aciduria)), OMIM:245400)

Official abbreviation MTDPS9
Name mitochondrial DNA depletion syndrome, type 9 (MTDPS-9, encephalomyopathic with methylmalonic aciduria)
OMIM ID 245400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SUCLG1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00451440 3bINP-028 PubMed: Vela-Amieva 2024 - F no Mexico Mexican 12y04m - - - MTDPS9 Short stature, low weight, intellectual disability, developmental regression, organic aciduria SUCLG1 SUCLG1 2 1 Miriam Erandi Reyna-Fabián
00451646 3bINP-084 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - MTDPS9 Severe intellectual disability, Developmental regression SUCLG1 SUCLG1 2 1 Miriam Erandi Reyna-Fabián
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