Disease

mitochondrial complex III deficiency nuclear type 5

Definition

A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.

Synonyms

None

Cross References

MIM:615160

Parent Terms

mitochondrial complex III deficiency

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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