ZFIN Human Disease: combined oxidative phosphorylation deficiency 32

OBO ID: DOID:0111492

Term Name:	combined oxidative phosphorylation deficiency 32		Search Ontology:
Synonyms:	COXPD32
Definition:	A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/28777931
References:	OMIM:617664
Ontology:	Human Disease ( DOID:0111492 )

Relationships

is a type of:	autosomal recessive disease combined oxidative phosphorylation deficiency autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

OTHER combined oxidative phosphorylation deficiency 32 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPS34	mrps34	Combined oxidative phosphorylation deficiency 32	617664

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None