Ichthyosis and erythrokeratodermaGene: ELOVL4
Associated with phenotype in OMIM, not in G2P. At least one variant reported in a family with Spinocerebellar ataxia 34 133190, including erythema and hyperkeratosis in early childhood
Created: 15 Aug 2017, 10:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Spinocerebellar ataxia 34 133190
gene: ELOVL4 was added gene: ELOVL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELOVL4 were set to 24566826; 26010696 Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190