DEAF1

DEAF1, transcription factor
OMIM: 602635
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autism, intellectual disability, basal ganglia dysfunction and epilepsy, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ?Dyskinesia, seizures, and intellectual developmental disorder, 617171, Mental retardation, autosomal dominant 24, 615828