Incontinentia pigmenti

OMIM:308300
Mode of inheritance:X-linked dominant
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	IKBKG
DNA Change	deletion of part of the gene
A.A. Change
Exon/Intron
Mutation Type	deletion
Reference	Tnacheri Ouazzani B, Guedira K, Dali H, Laghmari M, Ibrahimy W, Daoudi R, Sefiani A, Chakir M, Jiddane M, Mohcine Z.[Incontinentia pigmenti: a case study]. J Fr Ophtalmol. 2007 Oct;30(8):e24.

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  Variant not named according to HGVS recommendations