Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Autosomal recessive spastic paraplegia type 54 (SPG54) is 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 <i>DDHD2</i> gene (8p11.23) encoding phospholipase DDHD2. Disease data Classification Disease Synonyms SPG54 SPG54 ORPHA code 320380 OMIM code 615033 ICD10 code G11.4 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl