Details of Disease

General Information of Disease (ID: DISGXH61)

• Disease Name: Obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency
• Definition: Obsolete in Orphanet
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISGXH61: Obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency

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
UBE3B	OTJEDWX8	Definitive	Autosomal recessive	[1]

References

• [1] The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. Am J Med Genet A. 2011 Mar;155A(3):459-65. doi: 10.1002/ajmg.a.33642. Epub 2011 Feb 22.