Pitt-Hopkins syndrome
Findings
No curated finding names Pitt-Hopkins syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Definition from the Mondo Disease Ontology (MONDO:0012589), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
92 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Coarse facial featuresHPOHP:0000280
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Deep philtrumHPOHP:0002002
- 4 of 4 reported patients
- Deeply set eyeHPOHP:0000490
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Flared nostrilsHPOHP:0000454
- 4 of 4 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 80
- Thickened helicesHPOHP:0000391
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Wide mouthHPOHP:0000154
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Widely spaced teethHPOHP:0000687
- 4 of 4 reported patients
- Absent speechHPOHP:0001344
- 9 of 10 reported patients
- Frequent (30% to 79% of cases)
- Intermittent hyperventilationHPOHP:0004879
- 9 of 10 reported patients
- Abnormal helix morphologyHPOHP:0011039
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TCF4HGNC:11634
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021