OBO ID: DOID:0080136
Term Name: multiple mitochondrial dysfunctions syndrome 4 Search Ontology:
Synonyms:
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. (5)
References:
Ontology: Human Disease   (DOID:0080136)
OTHER multiple mitochondrial dysfunctions syndrome 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ISCA2 Multiple mitochondrial dysfunctions syndrome 4 616370
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None