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

Frontonasal dysplasia

OMIM:136760
Mode of inheritance:Sporadic
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolALX3
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