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中文Masa Syndrome (MASA)
Alias:
L1 Syndrome
Crash Syndrome
X-Linked Hydrocephalus Syndrome
Spg1
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
Spastic Paraplegia 1, X-Linked
Gareis-Mason Syndrome
L1cam Syndrome
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs
X-Linked Complicated Hereditary Spastic Paraplegia Type 1
Thumb, Congenital Clasped, with Mental Retardation
Adducted Thumbs-Mental Retardation Syndrome
Mental Retardation-Clasped Thumb Syndrome
Adducted Thumb with Mental Retardation
Clasped Thumb and Mental Retardation
Spastic Paraplegia Type 1, X-Linked
X-Linked Corpus Callosum Agenesis
Hereditary Spastic Paraplegia 1
X-Linked Spastic Paraplegia 1
Spastic Paraplegia 1
Masa Syndrome
L1 Disease
Crash
Masa
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马萨综合症，又名l1综合症，与常染色体显性遗传性脊髓性肌萎缩症和脊髓性肌萎缩症有关，症状包括肌肉痉挛。与马萨综合症有关的重要基因是L1CAM（L1细胞粘附分子），其相关通路/超级通路包括L1与Ankyrins的相互作用。该病的药物麻醉剂已被提及。附属组织包括大脑和脊髓，相关表型为智力障碍和痉挛。
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MALACARDS
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