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Cardiac anomalies-developmental delay-facial dysmorphism syndrome
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare surgical cardiac 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: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
MED13L Q71F56608771
No signs/symptoms info available.