PU¶PubMed·Journal article·Research (general)·33y agoUsher Syndrome Type IA GeneReviews entry on Usher Syndrome Type I (USH1), a genetic condition characterized by congenital sensorineural hearing loss and progressive vision loss, covering clinical characteristics and genetics.＋Save
PU¶PubMed·Journal article·Research (general)·33y agoOTOF -Related Hearing LossGeneReviews entry on OTOF-related hearing loss, an auditory synaptopathy caused by otoferlin gene variants, covering clinical characteristics, diagnosis, and management.＋Save
PU¶PubMed·Journal article·Clinical audiology·33y agoBeta-MannosidosisA GeneReviews entry on Beta-Mannosidosis, a rare metabolic disorder characterised by developmental delay with notably impaired speech, updated May 2026.＋Save
PU¶PubMed·Journal article·Research (general)·33y agoGeneralized Arterial Calcification of InfancyGeneReviews entry on Generalized Arterial Calcification of Infancy (GACI), a rare genetic disorder; peripheral relevance to hearing health only if vascular calcification affects auditory structures.＋Save
