autosomal recessive congenital ichthyosis 11 (DOID:0060720)
Alliance: disease page
Synonyms: autosomal recessive ichthyosis with hypotrichosis; hypotrichosis-congenital ichthyosis syndrome; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-hypotrichosis syndrome; IFAH syndrome; IHS
Alt IDs: OMIM:602400, ICD10CM:Q80.8
Definition: An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.