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neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.
Disease Ontology Description A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ4 on chromosome 9q34.11.
Mondo Term and Equivalent IDs
MONDO:0014562:  neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Orphanet:457185: 
UMLS:C4225392: