Spastic Paraplegia 54, Autosomal Recessive (SPG54)

Spastic Paraplegia 54, Autosomal Recessive(来自ICD-11)
别称:
Hereditary Spastic Paraplegia 54
Spg54
Autosomal Recessive Spastic Paraplegia Type 54
Paraplegia, Spastic, Type 54, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 54
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Spastic Paraplegia 54, Autosomal Recessive, also known as hereditary spastic paraplegia 54, is related to spasticity and spastic paraplegia 20, autosomal recessive. An important gene associated with Spastic Paraplegia 54, Autosomal Recessive is DDHD2 (DDHD Domain Containing 2), and among its related pathways/superpathways are Metabolism and Metabolic disorders of biological oxidation enzymes. Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and global developmental delay
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参考文献
MALACARDS
AR
Infant
<1/1000000
15
71
9

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