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Intellectual deficit, Birk-Barel type
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Synonym(s):
- Intellectual deficit - hypotonia - facial dysmorphism
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KCNK9 Q9NPC2605874
No signs/symptoms info available.