OBO ID: DOID:0080274
Term Name: multiple mitochondrial dysfunctions syndrome 5 Search Ontology:
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)
OTHER multiple mitochondrial dysfunctions syndrome 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ISCA1 Multiple mitochondrial dysfunctions syndrome 5 617613
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None