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Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Oculocerebrofacial syndrome, Kaufman type
Leber congenital amaurosis
Senior-Loken syndrome
Split hand-split foot malformation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
UBE3B Q7Z3V4608047
No signs/symptoms info available.