Severe intellectual disability with sparse hair and prominent interphalangeal joints.
- Specialty
- Genetics
- Subspecialty
- Genetics / Single-gene syndromes
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- SMARCA2
- Alternative names & eponyms
- NCBRS
Etiology & mechanism
SMARCA2 missense mutations.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Nicolaides–Baraitser 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.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Pallister–Killian syndrome
coarse facies, seizures, sparse hair
2 shared
Angelman syndrome
absent speech, seizures
2 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies, short stature
2 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies, seizures
2 shared
Cardiofaciocutaneous syndrome
seizures, sparse hair
2 shared
Coffin–Lowry syndrome
coarse facies, short stature
2 shared
Costello syndrome
coarse facies, short stature
2 shared
Hajdu–Cheney syndrome
coarse facies, short stature
2 shared
Hunter syndrome
coarse facies, short stature
2 shared
MELAS syndrome
seizures, short stature
Shares genes with
None.
Loading…
Loading…