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Human Disease
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
- Term ID
- DOID:0070461
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070461 )
- is a type of
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