Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 07-03-2013
Symbol MRD24
Location 11p15.5
Name mental retardation, autosomal dominant 24
Corresponding gene DEAF1
Other symbol(s) MRT21
Main clinical features
  • nonsyndromic severe mental retardation, severe motor delay with no walking or sitting, severe intellectual disability (ID)with very poor speech, and mild microcephaly
  • severely affected expressive speech and behavioral abnormalities, moderate to severe ID, disproportionally severely affected expressive speech (but significantly better speech comprehension and motor development)
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease
  • mutations affecting the SAND domain of the transcription factor DEAF1 cause Intellectual Disability and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. (PMID: 24726472))