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Metadata
ID DOID:0080274
Name multiple mitochondrial dysfunctions syndrome 5
Definition A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21.
https://www.ncbi.nlm.nih.gov/pubmed/28356563, https://www.ncbi.nlm.nih.gov/pubmed/29623423, https://www.ncbi.nlm.nih.gov/pubmed/31016283, https://www.omim.org/entry/617613
Xrefs

OMIM:617613

Parent Relationships

is_a multiple mitochondrial dysfunctions syndrome

is_a autosomal recessive disease

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