Term Name: multiple mitochondrial dysfunctions syndrome 5
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.
Ontology: Human Disease [DOID:0080274]   ( DOID:0080274 )

Relationships
is a type of: autosomal recessive disease multiple mitochondrial dysfunctions syndrome