Details of Disease

General Information of Disease (ID: DIS56G2R)

Disease Name Tolchin-Le Caignec syndrome
Synonyms
TOLCAS; intellectual developmental disorder With behavioral abnormalities and variable bone defects; TOLCHIN-LE CAIGNEC SYNDROME; intellectual developmental disorder With behavioural abnormalities and variable bone defects
Disease Hierarchy
DISYKSRF: Genetic disease
DIS56G2R: Tolchin-Le Caignec syndrome
Disease Identifiers
MONDO ID
MONDO_0033544
UMLS CUI
C5436509
OMIM ID
618971
MedGen ID
1724999

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SOX6 OTT0W0LE Strong Autosomal dominant [1]
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References

1 De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. Am J Hum Genet. 2020 Jun 4;106(6):830-845. doi: 10.1016/j.ajhg.2020.04.015. Epub 2020 May 21.