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

Mental retardation, X-linked 58

OMIM:300210
Mode of inheritance:X-linked recessive
Disease classification:Mental and behavioural disorders


Mutations

Gene SymbolTM4SF2
DNA ChangeBreakpoint of X;2 balanced translocation
A.A. ChangeFrameshift
Exon/Intron
Mutation Typeothers
ReferenceZemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J.A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nat Genet. 2000 Feb;24(2):167-70.

  Variant not named according to HGVS recommendations