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mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
Summary
- Synonym
-
- MC5DN4A
- Definition
- A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance.
- Super Class
- autosomal dominant disease mitochondrial complex V (ATP synthase) deficiency nuclear type 4
External Links
- Disease Ontology
- DOID:0070461
- Mondo Disease Ontology
- OMIM
Related Genes
