PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.100 CausalMutation phenotype CLINVAR Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. 19955343 2009