Usher Syndrome, Type Ih (USH1H)

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Disease Ontology 12 DOID:0110835 OMIM 56 612632 OMIM Phenotypic Series 56 PS276900

ICD10 32 H35.5 UMLS 71 C2675458

OMIM : ⁵⁶ Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900). (612632)

MalaCards based summary : Usher Syndrome, Type Ih, also known as usher syndrome, type 1h, is related to retinitis pigmentosa-deafness syndrome and deafness, autosomal recessive 48. An important gene associated with Usher Syndrome, Type Ih is USH1H (Usher Syndrome 1H (Autosomal Recessive)). Affiliated tissues include eye and retina, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Disease Ontology : ¹² An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.

Clinical features from OMIM:

612632

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