Visualize Submit Comment

Metadata
ID	DOID:0070495
Name	mitochondrial complex IV deficiency nuclear type 8
Definition	A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. https://pubmed.ncbi.nlm.nih.gov/20727754/
Xrefs	MIM:619052 UMLS_CUI:C5436689
SKOS	exactMatch UMLS_CUI:C5436689 exactMatch MIM:619052
Synonyms	MC4DN8 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance