Mitochondrial complex iv deficiency, nuclear type 3

Preferred Label : Mitochondrial complex iv deficiency, nuclear type 3;

Symbol : MC4DN3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619046;

Details

Origin ID

619046;

UMLS CUI

C5436682;

Genes related to phenotype
- Cytochrome C oxidase assembly factor cox10 [OMIM gene]
HPO term(s)
- Agitation [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brisk reflexes [HPO term]
- Cardiomyopathy [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Death in infancy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Focal T2 hyperintense thalamic lesion [HPO term]
- Generalized hypotonia [HPO term]
- Hyperalaninemia [HPO term]
- Hyperprolinemia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Macrocytic anemia [HPO term]
- Metabolic acidosis [HPO term]
- Muscle weakness [HPO term]
- Neonatal hypoglycemia [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Persistent head lag [HPO term]
- Poor eye contact [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Splenomegaly [HPO term]
- Status epilepticus [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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