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Isolated congenital megalocornea
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
14q22q23 microdeletion syndrome
Microphthalmia with brain and digit anomalies
Synonym(s):
- Congenital anterior megalophthalmia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CHRDL1 Q9BU40300350
No signs/symptoms info available.