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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
Xrefs

MIM:617954

Parent Relationships

is_a multiple mitochondrial dysfunctions syndrome

is_a autosomal recessive disease

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