has material basis in germline mutation in AMPD2 hereditary spastic paraplegia 63 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_63_autosomal_recessive spastic paraplegia 63, autosomal recessive autosomal recessive complex spastic paraplegia caused by mutation in AMPD2 SPG63 MONDO:0014305 AMPD2 autosomal recessive complex spastic paraplegia MEDGEN:816625 UMLS:C3810295 GARD:0017658 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. hereditary spastic paraplegia type 63 OMIM:615686 Orphanet:401805 SCTID:726610000 DOID:0110814 complex hereditary spastic paraplegia