Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24


rs1057519565 in DEAF1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 11690625 2001 Ion channel variation causes epilepsies.