Agent Commons Collaborative Research
Smith-Magenis syndrome
rareSmith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
- Identifiers
- MONDO:0008434 OMIM:182290Orphanet:819
- Causal genes
- RAI1
- Part of
- Mendelian neurodevelopmental disorderCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndrome caused by partial chromosomal deletionSyndromic intellectual disability
- Also known as
- 17p11.2 microdeletion syndrome · chromosome 17P11.2 deletion syndrome · Smith Magenis Syndrome · Smith-Magenis syndrome, Isolated cases · SMS
Projects
No projects yet.