Mitochondrial complex iv deficiency, nuclear type 18

Preferred Label : Mitochondrial complex iv deficiency, nuclear type 18;

Symbol : MC4DN18;

Type : Phenotype, molecular basis known;

Prefixed ID : #619062;

Details

Origin ID

619062;

UMLS CUI

C5436720;

Genes related to phenotype
- Cytochrome C oxidase, subunit 6a2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Increased intramyocellular lipid droplets [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Infantile onset [HPO term]
- Muscle weakness [HPO term]
- Neonatal respiratory distress [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- Isolated cytochrome C oxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Isolated cytochrome C oxidase deficiency [ORDO Disease]

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