Details of Disease | DrugMAP

General Information of Disease (ID: DISTIPAM)

Disease Name	Obsolete hypertelorism, Teebi type
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISTIPAM: Obsolete hypertelorism, Teebi type

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
SPECC1L	OT3WGZ73	Definitive	Autosomal dominant	[1]
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References

1	Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22.