Clark-Baraitser syndrome
MONDO:0030914Mondo
Findings
No curated finding names Clark-Baraitser syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
32 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.
- Global developmental delayHPOHP:0001263
- 20 of 20 reported patients
- Intellectual disabilityHPOHP:0001249
- 22 of 22 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 19 of 21 reported patients
- Motor delayHPOHP:0001270
- 7 of 8 reported patients
- Autistic behaviorHPOHP:0000729
- 6 of 8 reported patients
- Narrow palpebral fissureHPOHP:0045025
- 4 of 7 reported patients
- Downturned corners of mouthHPOHP:0002714
- 4 of 8 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Large earlobeHPOHP:0009748
- 6 of 16 reported patients
- Wide mouthHPOHP:0000154
- 6 of 16 reported patients
- Aggressive behaviorHPOHP:0000718
- 3 of 9 reported patients
- ObesityHPOHP:0001513
- 6 of 18 reported patients
Show the remaining 20
- EpicanthusHPOHP:0000286
- 4 of 16 reported patients
- Exaggerated cupid's bowHPOHP:0002263
- 4 of 16 reported patients
- Low hanging columellaHPOHP:0009765
- 4 of 16 reported patients
- Pointed chinHPOHP:0000307
- 2 of 8 reported patients
- Smooth philtrumHPOHP:0000319
- 2 of 8 reported patients
- SeizureHPOHP:0001250
- 4 of 19 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.
- TRIP12HGNC:12306
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: Clark-Baraitser syndrome
- Also called
- intellectual disability, autosomal dominant 49MRD49