Kabuki syndrome 1
OMIM:602113Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | MLL2 |
|---|---|
| Reference transcript | NM_003482.3 |
| DNA Change | c.4693+1G>A |
| A.A. Change | |
| Exon/Intron | intron 17 |
| Mutation Type | substitution |
| Reference | Ratbi I, Fejjal N, Micale L, Augello B, Fusco C, Lyahyai J, Merla G, Sefiani A.Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation. Mol Syndromol. 2013 Mar;4(3):152-6. |