Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1939+5G>A	p.?	Intron 15	RNA splicing defect	Disease-causing	n.a.	n.a.	Probably damaging	n.a.	n.a.	Mutation segregates with the disease

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	5	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia	Two brothers with HSCR. 1/5 stillborn, 1/5 died at young age 1/5 XLH only	Okamoto et al. (2004)

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Okamoto et al.	Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM	J Hum Genet	49	334-337	15148591