spastic paraplegia, autosomal recessive, type 20

spastic paraplegia, autosomal recessive, type 20

A complex autosomal recessive form (OMIM:275900) of spastic paraplegiatype 20 is characterised by dysarthria, distal amyotrophy, mild developmental delay and short stature.

Molecular pathology
Caused by defects of SPG20, which encodes a protein thought to regulate endosomal trafficking and/or microtubule dynamics.
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