Microcephaly, short stature, and polymicrogyria with seizures
OMIM:614833Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | RTTN |
|---|---|
| Reference transcript | NM_173630.3 |
| DNA Change | c.2953A>G |
| A.A. Change | p.Arg985Gly |
| Exon/Intron | exon 23 |
| Mutation Type | substitution |
| Reference | Grandone 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] |