Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2805_2843del39	p.Leu936_Leu948del	Exon 21	Deletion	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	Death < 1 yr: 2/4	MacFarlane et al. (1997)

Year	Author	Title	Journal	Volume	Pages	Weblink
1997	MacFarlane et al.	Nine novel L1CAM mutations in families with X-linked Hydrocephalus	Hum. Mutat.	9	512-518	9195224