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Usher syndrome, type 1M
Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa (Ahmed et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 (276900). [from OMIM]
Autosomal recessive nonsyndromic hearing loss 36
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene. [from MONDO]
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