Intellectual disability with sleep disturbance and congenital heart defects.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- RAI1
- Alternative names & eponyms
- 17p11.2 deletion syndrome
Etiology & mechanism
RAI1 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Smith–Magenis syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
CHARGE syndrome
hearing loss, heart defects
2 shared
Cornelia de Lange syndrome
hearing loss, heart defects
2 shared
Hajdu–Cheney syndrome
hearing loss, short stature
2 shared
Hunter syndrome
hearing loss, short stature
2 shared
Marshall syndrome
hearing loss, short stature
2 shared
MERRF syndrome
hearing loss, short stature
2 shared
Prader–Willi syndrome
behavioral problems, short stature
2 shared
Resistance to thyroid hormone
hearing loss, short stature
2 shared
Sanfilippo syndrome
behavioral problems, sleep disturbance
2 shared
Turner syndrome
hearing loss, short stature
Shares genes with
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