Genetics · Genetics / Single-gene syndromes
Pitt–Hopkins syndrome
also: TCF4 related intellectual disability
Severe intellectual disability with episodic hyperventilation.
- Specialty
- Genetics
- Subspecialty
- Genetics / Single-gene syndromes
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- TCF4
- Alternative names & eponyms
- TCF4 related intellectual disability
Etiology & mechanism
TCF4 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Pitt–Hopkins 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
2 shared
Angelman syndrome
absent speech, seizures
2 shared
Miller–Dieker syndrome
seizures, severe intellectual disability
2 shared
Nicolaides–Baraitser syndrome
absent speech, seizures
2 shared
Pallister–Killian syndrome
seizures, severe intellectual disability
1 shared
Action myoclonus–renal failure syndrome
seizures
1 shared
Alcohol withdrawal syndrome
seizures
1 shared
Amniotic fluid embolism syndrome
seizures
1 shared
Barakat syndrome
seizures
1 shared
Borjeson–Forssman–Lehmann syndrome
seizures
1 shared
Cardiofaciocutaneous syndrome
seizures
Shares genes with
None.
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