FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term multiple mitochondrial dysfunctions syndrome 6 ID (Ontology) DOID:0070332 (Human Disease)
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.
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 multiple mitochondrial dysfunctions syndrome 6       1
 for disease ribbon | multiple mitochondrial dysfunctions syndrome 6       1
 model of | multiple mitochondrial dysfunctions syndrome 6       1
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autosomal genetic disease
 |__autosomal recessive disease___________________
mitochondrial metabolism disease                  |
 |__multiple mitochondrial dysfunctions syndrome__|
                                                  multiple mitochondrial dysfunctions syndrome 6  1 rec.
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Is a autosomal recessive disease
multiple mitochondrial dysfunctions syndrome
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MIM:617954