DDHD2, DDHD domain containing 2, 23259

N. diseases: 37; N. variants: 11
Disease: Autosomal Recessive Hereditary Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		0.010 GeneticVariation disease BEFREE Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). 23486545 2013