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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
External Links
- Disease Ontology
- DOID:0070462
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P25705 | ATP synthase subunit alpha, mitochondrial |
