Details of Disease

General Information of Disease (ID: DISXRX3R)

Disease Name Structural brain anomalies with impaired intellectual development and craniosynostosis
Synonyms BAIDCS; STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
Disease Hierarchy
DISYKSRF: Genetic disease
DISXRX3R: Structural brain anomalies with impaired intellectual development and craniosynostosis
Disease Identifiers
MONDO ID
MONDO_0032892
UMLS CUI
C5231485
OMIM ID
618736
MedGen ID
1684861

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
ZIC1 OTP5E23B Strong Autosomal dominant [1]
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References

1 Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007.