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Fatal infantile encephalopathy-pulmonary hypertension syndrome
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Fatal multiple mitochondrial dysfunction syndrome
22q11.2 deletion syndrome
Lafora disease
Synonym(s):
- Lipoic acid synthase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
NFU1 Q9UMS0608100
No signs/symptoms info available.