ZFIN Human Disease: multiple mitochondrial dysfunctions syndrome 5

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:	OMIM:617613
Ontology:	Human Disease ( DOID:0080274 )

Relationships

is a type of:	autosomal recessive disease multiple mitochondrial dysfunctions syndrome autosomal recessive disease multiple mitochondrial dysfunctions syndrome Show first 5 Terms

OTHER multiple mitochondrial dysfunctions syndrome 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ISCA1	isca1	Multiple mitochondrial dysfunctions syndrome 5	617613

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None