hereditary spastic paraplegia 63
An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
AMPD2 autosomal recessive complex spastic paraplegia
exact
SPG63
exact
autosomal recessive complex spastic paraplegia caused by mutation in AMPD2
exact
hereditary spastic paraplegia type 63
exact
spastic paraplegia 63, autosomal recessive
related
SPBC106.04