Deafness, Autosomal Recessive 103 (DFNB103)

Deafness, Autosomal Recessive 103(来自ICD-11)
别称:
Dfnb103
Autosomal Recessive Nonsyndromic Deafness 103
Autosomal Recessive Nonsyndromic Hearing Loss 103
Deafness, Autosomal Recessive, Type 103
Deafness, Autosomal Recessive, 103
Autosomal Recessive Deafness 103
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Deafness, Autosomal Recessive 103, also known as dfnb103, is related to ischemic neuropathy and deafness, autosomal recessive 102. An important gene associated with Deafness, Autosomal Recessive 103 is CLIC5 (Chloride Intracellular Channel 5), and among its related pathways/superpathways are Sensory processing of sound and Hepatic ABC Transporters. Related phenotypes are sensorineural hearing impairment and vestibular areflexia
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MALACARDS
AR
Unknown
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8
46
2

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