has material basis in germline mutation in ENTPD1 hereditary spastic paraplegia 64 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_64_autosomal_recessive DOID:0110815 Orphanet:401810 An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. spastic paraplegia 64, autosomal recessive hereditary spastic paraplegia type 64 UMLS:C3810289 SPG64 MONDO:0014303 autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1 OMIM:615683 autosomal recessive spastic paraplegia type 64 MEDGEN:816619 ENTPD1 autosomal recessive complex spastic paraplegia GARD:0017659 SCTID:726609005 complex hereditary spastic paraplegia