Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ALX3

Gene name: ALX homeobox 3
OMIM ID: 606014
Chromosome location: 1p13.3

Mutations

Disease/PhenotypeFrontonasal dysplasia
DNA ChangeIVS2-2 A>T
A.A. Change
Exon/Intronintron 2
Mutation Typesubstitution
ReferenceTwigg SR, Versnel SL, N?rnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, N?rnberg P, Mathijssen IM, Wilkie AO.Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Am J Hum Genet. 2009 May;84(5):698-705.

  Variant not named according to HGVS recommendations