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Metadata
ID DOID:0112082
Name nuclear type mitochondrial complex I deficiency 4
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2.
https://pubmed.ncbi.nlm.nih.gov/10080174/
Xrefs

OMIM:618225

Synonyms

MC1DN4 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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