Metadata | |
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ID | DOID:0080274 |
Name | multiple mitochondrial dysfunctions syndrome 5 |
Definition | A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/28356563, https://www.ncbi.nlm.nih.gov/pubmed/29623423, https://www.ncbi.nlm.nih.gov/pubmed/31016283 |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |