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Metadata
ID	DOID:0070332
Name	multiple mitochondrial dysfunctions syndrome 6
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. https://www.ncbi.nlm.nih.gov/pubmed/29576218, https://www.omim.org/entry/617954
Xrefs	OMIM:617954
Parent Relationships	is_a multiple mitochondrial dysfunctions syndrome is_a autosomal recessive disease