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Metadata
ID DOID:0112088
Name nuclear type mitochondrial complex I deficiency 21
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12.
https://pubmed.ncbi.nlm.nih.gov/20818383/
Xrefs

OMIM:618242

Synonyms

MC1DN21 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

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