Coffin–Lowry syndrome

Also known as: Coffin–Lowry syndrome

X-linked intellectual disability syndrome with characteristic facial and skeletal features.

Medical specialty: Neurology
Subspecialty: Neurology / Neurogenetics
Sex & age distribution: Male: affected, nearly all; Female: affected, milder (variable); Children: yes, childhood onset
Gene(s) involved: RPS6KA3

Etiology & mechanism

RPS6KA3 mutations.

Gene(s) involved (1)

RPS6KA3

Symptoms & signs (5)

coarse faciesintellectual disabilityshort staturestimulus-induced drop episodestapering fingers

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