Spastic Paraplegia 47, Autosomal Recessive (SPG47)

Spastic Paraplegia 47, Autosomal Recessive, also known as hereditary spastic paraplegia 47, is related to spastic paraplegia 52, autosomal recessive and spastic paraplegia 11, autosomal recessive, and has symptoms including muscle spasticity, seizures and waddling gait. An important gene associated with Spastic Paraplegia 47, Autosomal Recessive is AP4B1 (Adaptor Related Protein Complex 4 Subunit Beta 1), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. Affiliated tissues include brain, and related phenotypes are high palate and wide nasal bridge