Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.76+1G>T	p.?	Intron 1	Splice site	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hydrocephalus, Mental retardation		Jouet and Kenwrick (1995c)

Year	Author	Title	Journal	Volume	Pages	Weblink
1995c	Jouet and Kenwrick	Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus	Lancet	345	161-162	7823673