hereditary spastic paraplegia 64
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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
ENTPD1 autosomal recessive complex spastic paraplegia
exact
SPG64
exact
autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1
exact
autosomal recessive spastic paraplegia type 64
exact
hereditary spastic paraplegia type 64
exact
spastic paraplegia 64, autosomal recessive
related