Tolchin-Le Caignec syndrome
MONDO:0033544Mondo
Findings
No curated finding names Tolchin-Le Caignec syndrome 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
- Infantile onset
HPO, annotations 2026-09-02
Features
37 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.
- Intellectual disabilityHPOHP:0001249
- 18 of 19 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 10 of 19 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 19 reported patients
- OsteochondromaHPOHP:0030431
- 3 of 19 reported patients
- ArachnodactylyHPOHP:0001166
- 2 of 19 reported patients
- High palateHPOHP:0000218
- 2 of 19 reported patients
- HypertelorismHPOHP:0000316
- 2 of 19 reported patients
- ScaphocephalyHPOHP:0030799
- 2 of 19 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 1 of 19 reported patients
- Cardiac rhabdomyomaHPOHP:0009729
- 1 of 19 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 19 reported patients
- Diastasis rectiHPOHP:0001540
- 1 of 19 reported patients
Show the remaining 25
- DysgraphiaHPOHP:0010526
- 1 of 19 reported patients
- Food allergyHPOHP:0500093
- 1 of 19 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 19 reported patients
- High foreheadHPOHP:0000348
- 1 of 19 reported patients
- HirsutismHPOHP:0001007
- 1 of 19 reported patients
- Hooded eyelidHPOHP:0030820
- 1 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.
- SOX6HGNC:16421
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of