hereditary spastic paraplegia 54
A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
DDHD2 autosomal recessive complex spastic paraplegia
exact
SPG54
exact
autosomal recessive complex spastic paraplegia caused by mutation in DDHD2
exact
autosomal recessive spastic paraplegia type 54
exact
hereditary spastic paraplegia type 54
exact
spastic paraplegia 54, autosomal recessive
related
SPAC4F8.15 SPCC1020.13c SPAC20G8.02