Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Fryns et al.	1991	J. Med. Genet.	429-431	28	X-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 Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 2	Exon 6	c.536T>G	p.Ile179Ser	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	5	c.536T>G	p.Ile179Ser	Exon 6	Adducted thumbs, Mental retardation, Spastic paraplegia