Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3489_3490delTG	p.Glu1164GlyfsX7	Exon 26	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Cytopl.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	6	Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia	Died <1 yr: 0/6	Jouet et al. (1994)

Year	Author	Title	Journal	Volume	Pages	Weblink
1994	Jouet et al.	X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene	Nat. Genet.	7	402-407	7920659