ichthyosis follicularis-alopecia-photophobia syndrome 1 (DOID:0111821)
Alliance: disease page
Synonyms: ichthyosis follicularis-atrichia-photophobia syndrome 1; IFAP syndrome 1; IFAP syndrome 1 with or without BRESHECK syndrome
Alt IDs: OMIM:308205, MESH:C536085, ORDO:2273, UMLS_CUI:C1839988
Definition: A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.