Spastic Paraplegia 45, Autosomal Recessive (SPG45)

Spastic Paraplegia 45, Autosomal Recessive(来自ICD-11)
别称:
Hereditary Spastic Paraplegia 45
Spg45
Autosomal Recessive Spastic Paraplegia Type 45
Autosomal Recessive Spastic Paraplegia Type 65
Spg65
Paraplegia, Spastic, Type 45, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 45
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 45, Autosomal Recessive, also known as hereditary spastic paraplegia 45, is related to spastic paraplegia 20, autosomal recessive and paraplegia. An important gene associated with Spastic Paraplegia 45, Autosomal Recessive is NT5C2 (5'-Nucleotidase, Cytosolic II). Affiliated tissues include skeletal muscle and brain, and related phenotypes are intellectual disability and flexion contracture of toe
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基础信息

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参考文献
MALACARDS
AR
Infant
<1/1000000
19
82
5

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