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Human Disease

multiple mitochondrial dysfunctions syndrome 5

Term ID
DOID:0080274
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. (4)
References
Ontology
Human Disease   ( DOID:0080274 )
Relationships
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Genes Involved
Zebrafish Models