OBO ID: DOID:0080134
Term Name: multiple mitochondrial dysfunctions syndrome 2 Search Ontology:
Synonyms:
  • BOLA3 deficiency
  • multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
Definition: A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (5)
References:
Ontology: Human Disease   (DOID:0080134)
OTHER multiple mitochondrial dysfunctions syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BOLA3 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None