Pitt–Hopkins syndrome

Also known as: TCF4 related intellectual disability

Severe intellectual disability with episodic hyperventilation.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: TCF4

Etiology & mechanism

TCF4 haploinsufficiency.

Gene(s) involved (1)

TCF4

Symptoms & signs (6)

absent speechconstipationepisodic hyperventilationseizuressevere intellectual disabilitywide mouth

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