Details of Disease

General Information of Disease (ID: DIS1E4N3)

Disease Name Obsolete cerebrofaciothoracic dysplasia
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DIS1E4N3: Obsolete cerebrofaciothoracic dysplasia

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
TMCO1 OTSME34W Definitive Autosomal recessive [1]
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References

1 Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant. Am J Med Genet A. 2019 Jan;179(1):43-49. doi: 10.1002/ajmg.a.60678. Epub 2018 Dec 17.