FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term multiple mitochondrial dysfunctions syndrome 5 ID (Ontology) DOID:0080274 (Human Disease)
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.
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 multiple mitochondrial dysfunctions syndrome 5       1
 for disease ribbon | multiple mitochondrial dysfunctions syndrome 5       1
 model of | multiple mitochondrial dysfunctions syndrome 5       1
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autosomal genetic disease
 |__autosomal recessive disease___________________
mitochondrial metabolism disease                  |
 |__multiple mitochondrial dysfunctions syndrome__|
                                                  multiple mitochondrial dysfunctions syndrome 5  1 rec.
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Is a autosomal recessive disease
multiple mitochondrial dysfunctions syndrome
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MIM:617613