Reference details

Fryns et al.1991J. Med. Genet.429-43128X-linked complicated spastic paraplegia, MASA syndrome and X-linked hydrocephaly due to congenital stenosis of the aqueduct of Sylvius: a variable expression of the same mutation at Xq28 1870106

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 2Exon 6c.536T>Gp.Ile179SerMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 5 c.536T>G p.Ile179SerExon 6 Adducted thumbs, Mental retardation, Spastic paraplegia