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multiple mitochondrial dysfunctions syndrome 6
Summary
- 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.
- Super Class
- autosomal recessive disease multiple mitochondrial dysfunctions syndrome
External Links
- Disease Ontology
- DOID:0070332
- Mondo Disease Ontology
- OMIM
Related Genes
