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FASTKD2-related infantile mitochondrial encephalomyopathy
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Isolated cytochrome C oxidase deficiency
Autosomal dominant hypohidrotic ectodermal dysplasia
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
FASTKD2 Q9NYY8612322
No signs/symptoms info available.