Disease: Spastic paraplegia type 5A, recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		0.010 GeneticVariation disease BEFREE We present a 19-year old male patient with autosomal recessive spastic paraplegia and compound heterozygosity for two ALDH18A1 mutations, one in each of the P5CS domains. 29754261 2018