multiple mitochondrial dysfunctions syndrome 4

Summary

DOID:0080136 - multiple mitochondrial dysfunctions syndrome 4

Disease Ontology Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: isca2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mitochondrial metabolism disease (is_a), multiple mitochondrial dysfunctions syndrome (is_a)