Ichthyosis Follicularis-Alopecia-Photophobia Syndrome

Ichthyosis Follicularis-Alopecia-Photophobia Syndrome, also known as ifap syndrome, is related to ifap syndrome 1, with or without bresheck syndrome and ichthyosis, and has symptoms including seizures and photophobia. An important gene associated with Ichthyosis Follicularis-Alopecia-Photophobia Syndrome is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Metabolism of steroids. Affiliated tissues include skin and kidney, and related phenotypes are intellectual disability and seizure