Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.523+6T>G	none	Intron 5	Intronic variation	Non disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Proven, no influence on RNA splicing

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation		Hofstra et al. (2002)

Year	Author	Title	Journal	Volume	Pages	Weblink
2002	Hofstra et al.	Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?	J. Med. Genet	39	el 1	11897831
2004	Okamoto et al.	Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM	J Hum Genet	49	334-337	15148591