Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive

Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease X-Linked Recessive 5

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Medical Symptom

Gene & Mutation

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Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive, also known as charcot-marie-tooth disease x-linked recessive 5, is related to charcot-marie-tooth disease, x-linked recessive, 5. An important gene associated with Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1).

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