Spastic Paraplegia 9b, Autosomal Recessive (SPG9B)

Spastic Paraplegia 9b, Autosomal Recessive(来自ICD-11)
别称:
Autosomal Recessive Complex Spastic Paraplegia Type 9b
Spg9b
Hereditary Spastic Paraplegia 9b
Autosomal Recessive Spastic Paraplegia Type 9b
Autosomal Recessive Spastic Paraplegia 9b
Ar-Spg9b
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References Literature
Spastic Paraplegia 9b, Autosomal Recessive, also known as autosomal recessive complex spastic paraplegia type 9b, is related to autosomal dominant spastic paraplegia type 9b and spastic paraplegia 14, autosomal recessive. An important gene associated with Spastic Paraplegia 9b, Autosomal Recessive is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are superpathway of L-citrulline metabolism and Amino acid metabolism. Affiliated tissues include skin and skeletal muscle, and related phenotypes are spasticity and babinski sign
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参考文献
MALACARDS
AR
Infant
<1/1000000
12
55
2

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