multiple mitochondrial dysfunctions syndrome 5

Term ID

DOID:0080274

Synonyms

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. (4)

References

• OMIM:617613

Ontology

Human Disease   ( DOID:0080274 )