Term Name:	ichthyosis follicularis-alopecia-photophobia syndrome 1
Synonyms:	ichthyosis follicularis-atrichia-photophobia syndrome 1, IFAP syndrome 1, IFAP syndrome 1 with or without BRESHECK syndrome
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.
Ontology:	Human Disease [DOID:0111821]   ( DOID:0111821 )