Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis

Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis(来自ICD-11)

别称:

Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome

Fitzsimmons-Mclachlan-Gilbert Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis, also known as paraplegia-intellectual disability-hyperkeratosis syndrome, is related to paraplegia-intellectual disability-hyperkeratosis syndrome, and has symptoms including tremor of hands An important gene associated with Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2). Related phenotypes are intellectual disability and tremor

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