Spastic Paraplegia 13, Autosomal Dominant (SPG13)

Spastic Paraplegia 13, Autosomal Dominant(来自ICD-11)
别称:
Spg13
Hereditary Spastic Paraplegia 13
Autosomal Dominant Spastic Paraplegia Type 13
Autosomal Dominant Spastic Paraplegia 13
Paraplegia, Spastic, Type 13
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Spastic Paraplegia 13, Autosomal Dominant, also known as spg13, is related to hypomyelinating leukodystrophy and spastic paraplegia 20, autosomal recessive, and has symptoms including urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 13, Autosomal Dominant is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1). Affiliated tissues include brain, and related phenotypes are spastic paraplegia and urinary bladder sphincter dysfunction
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参考文献
MALACARDS
AD
Adolescent
<1/1000000
18
89
4

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