Usher Syndrome, Type I (USH1)

Usher Syndrome, Type I(来自ICD-11)
别称:
Usher Syndrome Type 1
Ush1
Usher Syndrome, Type Ib
Usher Syndrome Type 1e
Usher Syndrome, Type Ie
Usher Syndrome, Type 1b
Usher Syndrome, Type 1e
Usher Syndrome Type 1b
Ush1e
Us1
Retinitis Pigmentosa and Congenital Deafness
Usher's Syndrome Type 1b
Usher Syndrome Type Ie
Usher Syndrome Type Ib
Usher Syndrome Type I
Usher Syndrome 1b
Usher 1
Ush1b
Ushib
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Usher Syndrome, Type I, also known as usher syndrome type 1, is related to usher syndrome, type ic and usher syndrome, type id, and has symptoms including unspecified visual loss An important gene associated with Usher Syndrome, Type I is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Olfactory Signaling Pathway and Sensory processing of sound. Affiliated tissues include eye and retina, and related phenotypes are intellectual disability and ataxia
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参考文献
MALACARDS
AR
Newborn
1-9/100000
79
705
176

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