Details of Disease

General Information of Disease (ID: DISEKX4A)

• Disease Name: Obsolete autosomal dominant Opitz G/BBB syndrome
• Synonyms: BBB syndrome; hypertelorism with esophageal Abnormality and hypospadias; telecanthus with associated abnormalities; Opitz GBBB syndrome, type II; chromosome 22Q11.2 deletion syndrome, Opitz phenotype; GBBB2; G syndrome; hypertelorism-hypospadias syndrome; Opitz Bbbg syndrome; Opitz GBBB syndrome, autosomal dominant; hypospadias-dysphagia syndrome; telecanthus-hypospadias syndrome; Opitz-G syndrome, type 2; Opitz-Frias syndrome; Opitz GBBB syndrome, type 2; Opitz oculogenitolaryngeal syndrome, type 2; GBBB syndrome; autosomal dominant Opitz syndrome; autosomal dominant Opitz BBB/G syndrome; ADOS; Opitz G/BBB syndrome, autosomal dominant
• Definition: OBSOLETE. Autosomal dominant form of Opitz G/BBB syndrome.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISEKX4A: Obsolete autosomal dominant Opitz G/BBB syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPECC1L	OT3WGZ73	Strong	Autosomal dominant	[1]

References

• [1] PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.