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

Fragile X mental retardation syndrome

OMIM:300624
Mode of inheritance:X-linked dominant
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolFMR1
DNA Change(CGG)n repeat expansion >200
A.A. Change
Exon/Intron
Mutation Typerepeat
ReferenceCHERKAOUI DEQAQI S, BENHAMOU B, BELDJORD C, SEFIANI A. X-linked mental retardation : a familial case report,
Esperance medicale.1998 ;5(44):472-474.

  Variant not named according to HGVS recommendations