Term Name: | multiple mitochondrial dysfunctions syndrome 5 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080274] ( DOID:0080274 ) |