Spastic Paraplegia 2, X-Linked (SPG2)

Spastic Paraplegia 2, X-Linked(来自ICD-11)
别称:
Spg2
Hereditary Spastic Paraplegia 2
Spastic Paraplegia Type 2
Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia Type 2
Spastic Paraparesis Type 2
Spastic Paraplegia 2
Spastic Gait Type 2
Sppx2
X Linked Recessive Hereditary Spastic Paraplegia
Spastic Paraplegia Type 2, X-Linked
X-Linked Spastic Paraplegia 2
Paraplegia, Spastic, Type 2
Spastic Paraplegia-2
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Medical Symptom
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References Literature
Spastic Paraplegia 2, X-Linked, also known as spg2, is related to pelizaeus-merzbacher disease and leukodystrophy, and has symptoms including ataxia and cerebellar signs. An important gene associated with Spastic Paraplegia 2, X-Linked is PLP1 (Proteolipid Protein 1). Affiliated tissues include spinal cord and eye, and related phenotypes are spasticity and hyperreflexia
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参考文献
MALACARDS
XL
XLD
Child
<1/1000000
32
202
69

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