Spastic Quadriplegic Cerebral Palsy

Spastic Quadriplegic Cerebral Palsy(来自ICD-11)
别称:
Spastic Quadriplegia
Inherited Congenital Spastic Tetraplegia
Inherited Congenital Spastic Quadriplegia
Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy
Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy
Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy with Spastic Tetraplegia
Spastic Tetraplegic Cerebral Palsy
Congenital Spastic Quadriplegia
Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Spastic Quadriplegic Cerebral Palsy, also known as spastic quadriplegia, is related to hereditary spastic paraplegia 51 and spastic paraplegia 50, autosomal recessive, and has symptoms including muscle spasticity and opisthotonus. An important gene associated with Spastic Quadriplegic Cerebral Palsy is KANK1 (KN Motif And Ankyrin Repeat Domains 1), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include brain and spinal cord, and related phenotype is nervous system.
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相关ID:
MESH:D002547
ICD11:1155284708

基础信息

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参考文献
MALACARDS
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Unknown
<1/1000000
45
331
--

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