Kleefstra syndrome

Also known as: 9q34 deletion syndrome

Intellectual disability with hypotonia and distinctive facial features.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: EHMT1

Etiology & mechanism

EHMT1 haploinsufficiency.

Gene(s) involved (1)

EHMT1

Symptoms & signs (6)

absent speechheart defectshypotoniaintellectual disabilitymicrocephalysynophrys

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