Spastic Paraplegia 82, Autosomal Recessive (SPG82)

Spastic Paraplegia 82, Autosomal Recessive(来自ICD-11)
别称:
Spg82
Hereditary Spastic Paraplegia 82
Autosomal Recessive Spastic Paraplegia Type 82
Spastic Paraplegia 82 Autosomal Recessive
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Spastic Paraplegia 82, Autosomal Recessive, also known as spg82, is related to spastic paraplegia 14, autosomal recessive and spastic paraplegia 57, autosomal recessive. An important gene associated with Spastic Paraplegia 82, Autosomal Recessive is PCYT2 (Phosphate Cytidylyltransferase 2, Ethanolamine), and among its related pathways/superpathways are Metabolic disorders of biological oxidation enzymes and plasmalogen biosynthesis. Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and spasticity
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MALACARDS
AR
Unknown
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10
44
2

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