Kohlschutter-Tonz syndrome
OMIM:226750Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | ROGDI |
|---|---|
| Reference transcript | NM_024589.2 |
| DNA Change | c.229_230delCT |
| A.A. Change | p.Leu77AlafsX64 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tonz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, et al.Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome. Am J Hum Genet. 2012 Apr 6;90(4):701-7. |