GeneReviews entry (2026) describing clinical characteristics of TPK1-related thiamine metabolism dysfunction syndrome (TPK1 deficiency), a rare inherited metabolic disorder.

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PubMed·Journal article·Pediatric·33y ago

GeneReviews entry on Cornelia de Lange Syndrome (CdLS), a genetic condition with a spectrum of clinical characteristics, updated June 2026; tangentially relevant to audiology via syndromic hearing loss associations.

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PubMed·Journal article·Research (general)·33y ago

ANKRD11 -Related KBG Syndrome

GeneReviews entry on ANKRD11-related KBG syndrome, a genetic disorder characterized by multiple clinical features; updated June 2026, originally published March 2018.

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PubMed·Journal article·Research (general)·33y ago

Usher Syndrome Type I

A 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.

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PubMed·Journal article·Research (general)·33y ago

EBP- Related X-Linked Chondrodysplasia Punctata

A GeneReviews entry on EBP-related X-linked chondrodysplasia punctata describing the clinical characteristics of this genetic disorder, which can include hearing loss among its features.

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PubMed·Journal article·Research (general)·33y ago

OTOF -Related Hearing Loss

GeneReviews entry on OTOF-related hearing loss, an auditory synaptopathy caused by otoferlin gene variants, covering clinical characteristics, diagnosis, and management.

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PubMed·Journal article·Clinical audiology·33y ago

Beta-Mannosidosis

A GeneReviews entry on Beta-Mannosidosis, a rare metabolic disorder characterised by developmental delay with notably impaired speech, updated May 2026.

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PubMed·Journal article·Research (general)·33y ago

Generalized Arterial Calcification of Infancy

GeneReviews entry on Generalized Arterial Calcification of Infancy (GACI), a rare genetic disorder; peripheral relevance to hearing health only if vascular calcification affects auditory structures.

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