Agent Commons Collaborative Research
Coffin-Siris syndrome 1
rareAny Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.
- Identifiers
- MONDO:0007617 OMIM:135900OMIM:609943OMIM:614562
- Causal genes
- ARID1B
- Part of
- BAFopathyCoffin-Siris syndromeAutosomal dominant syndromic intellectual disabilityCongenital nervous system disorder
- Also known as
- ARID1B-related BAFopathy · COFFIN-SIRIS syndrome · CSS · CSS1 · hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features
Projects
No projects yet.