Nicolaides–Baraitser syndrome

Also known as: NCBRS

Severe intellectual disability with sparse hair and prominent interphalangeal joints.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: SMARCA2

Etiology & mechanism

SMARCA2 missense mutations.

Gene(s) involved (1)

SMARCA2

Symptoms & signs (6)

absent speechcoarse faciesprominent finger jointsseizuresshort staturesparse hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.