OBO ID: DOID:0070332
Term Name: multiple mitochondrial dysfunctions syndrome 6 Search Ontology:
Synonyms:
Definition: A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB on chromosome 7q22. (2)
References:
Ontology: Human Disease   (DOID:0070332)
OTHER multiple mitochondrial dysfunctions syndrome 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PMPCB Multiple mitochondrial dysfunctions syndrome 6 617954
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None