mitochondrial complex V (ATP synthase) deficiency nuclear type 4B

Summary
Synonym
  • MC5DN4B
Definition
A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance.
Super Class
autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency nuclear type 4
Disease Ontology
DOID:0070462
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
498 ATP5F1A ATP synthase F1 subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
11946 Atp5f1a ATP synthase F1 subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
65262 Atp5f1a ATP synthase F1 subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024