Details of Disease

General Information of Disease (ID: DISC0WSY)

• Disease Name: Obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome
• Synonyms: intellectual disability-loss of expressive language-facial dysmorphism syndrome
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISC0WSY: Obsolete intellectual disability-expressive aphasia-facial dysmorphism 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
SETBP1	OTKGCOSR	Supportive	Autosomal dominant	[1]

References

• [1] Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.