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Fatal multiple mitochondrial dysfunction syndrome
2 OMIM references -
2 associated genes
3 connected diseases
No signs/symptoms info
Disease Type of connection
Fatal infantile encephalopathy-pulmonary hypertension syndrome
22q11.2 deletion syndrome
Lafora disease
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
BOLA3 Q53S33613183
NFU1 Q9UMS0608100
No signs/symptoms info available.