Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia (CMTX4)

Alias:
Cowchock Syndrome
Neuropathy, Axonal Motor-Sensory, with Deafness and Mental Retardation
Charcot-Marie-Tooth Disease X-Linked Recessive 4
Cmtx4
Cowck
Namsd
Nadmr
Charcot-Marie-Tooth Disease with Deafness and Mental Retardation
Charcot-Marie-Tooth Disease Deafness Mental Retardation
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia, also known as cowchock syndrome, is related to charcot-marie-tooth disease x-linked recessive 4 and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include brain and peripheral nerve, and related phenotypes are cognitive impairment and elevated hepatic transaminase
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
--
2
10
8

Medical Symptom

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No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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No data available

References Literature

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