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

Spondylometaepiphyseal dysplasia, short limb-hand type

OMIM:271665
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolDDR2
Reference transcriptNM_001014796.1
DNA Changec.370C>T
A.A. Changep.Arg124Trp
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceMansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Am J Med Genet A. 2016 Feb;170A(2):460-5. doi: 10.1002/ajmg.a.37426. Epub 2015 Oct 13.