has material basis in germline mutation in DDHD2 hereditary spastic paraplegia 54 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_54_autosomal_recessive spastic paraplegia 54, autosomal recessive DDHD2 autosomal recessive complex spastic paraplegia GARD:0017475 UMLS:C3539495 hereditary spastic paraplegia type 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. autosomal recessive spastic paraplegia type 54 DOID:0110806 SCTID:723824005 MEDGEN:761341 autosomal recessive complex spastic paraplegia caused by mutation in DDHD2 OMIM:615033 MONDO:0014018 SPG54 Orphanet:320380 complex hereditary spastic paraplegia