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


Gene name: rotatin
OMIM ID: 610436
Chromosome location: 18q22.2


Disease/PhenotypeMicrocephaly, short stature, and polymicrogyria with seizures
Reference transcriptNM_173630.3
DNA Changec.2953A>G
A.A. Changep.Arg985Gly
Exon/Intronexon 23
Mutation Typesubstitution
ReferenceGrandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Del Giudice EM, Perrone L, Nigro V. Expanding the phenotype of RTTN varations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Clin Genet. 2016 Mar 4. doi: 10.1111/cge.12771. [Epub ahead of print]