arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
MONDO:0032642Mondo
Findings
No curated finding names arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Third trimester onset
HPO, annotations 2026-09-02
Features
19 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Cleft palateHPOHP:0000175
- 2 of 2 reported patients
- CraniosynostosisHPOHP:0001363
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Decreased calvarial ossificationHPOHP:0005474
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Slender long boneHPOHP:0003100
- 1 of 1 reported patient
Show the remaining 7
- Generalized-onset seizureHPOHP:0002197
- 1 of 2 reported patients
- HydronephrosisHPOHP:0000126
- 1 of 2 reported patients
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 2 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 2 reported patients
- Thin ribsHPOHP:0000883
- 1 of 2 reported patients
- TrigonocephalyHPOHP:0000243
- 1 of 2 reported patients
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.
- PPP3CAHGNC:9314
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of