Details of Disease

General Information of Disease (ID: DISE721U)

• Disease Name: Intellectual disability, autosomal dominant 22
• Synonyms: autosomal dominant non-syndromic intellectual disability 22; chromosome 1Qter deletion syndrome; chromosome 1Q43-q44 deletion syndrome; mental retardation, autosomal dominant 22; autosomal dominant mental retardation 22; intellectual disability, autosomal dominant type 22; mental retardation, autosomal dominant type 22; autosomal dominant intellectual disability 22; autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18; MRD22; ZBTB18 autosomal dominant non-syndromic intellectual disability; intellectual disability, autosomal dominant 22
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.
• Disease Hierarchy:
  DISD6L06: Autosomal dominant non-syndromic intellectual disability
  DISE721U: Intellectual disability, autosomal dominant 22

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
ZBTB18	OTOUVAG5	Definitive	Autosomal dominant	[1]

References

• [1] A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. Eur J Hum Genet. 2014 Jun;22(6):844-6. doi: 10.1038/ejhg.2013.249. Epub 2013 Nov 6.