Ichthyosis, Spastic Quadriplegia, and Impaired Intellectual Development (ISQMR)

Ichthyosis, Spastic Quadriplegia, and Impaired Intellectual Development, also known as congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, is related to gastroesophageal reflux and spinocerebellar ataxia 34, and has symptoms including seizures, dry skin and scaly skin. An important gene associated with Ichthyosis, Spastic Quadriplegia, and Impaired Intellectual Development is ELOVL4 (ELOVL Fatty Acid Elongase 4). Affiliated tissues include skin and brain, and related phenotypes are microcephaly and abnormality of visual evoked potentials