multiple mitochondrial dysfunctions syndrome 6

Term ID

DOID:0070332

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. https://www.ncbi.nlm.nih.gov/pubmed/29576218

References

• MIM:617954

Ontology

Human Disease   ( DOID:0070332 )