ZFIN Human Disease: multiple mitochondrial dysfunctions syndrome 6

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 gene on chromosome 7q22. (2)
References:	OMIM:617954
Ontology:	Human Disease ( DOID:0070332 )

Relationships

is a type of:	autosomal recessive disease multiple mitochondrial dysfunctions syndrome autosomal recessive disease multiple mitochondrial dysfunctions syndrome Show first 5 Terms

OTHER multiple mitochondrial dysfunctions syndrome 6 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PMPCB	pmpcb	Multiple mitochondrial dysfunctions syndrome 6	617954

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None