Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.52dupC	p.Leu18ProfsX10	Exon 1	Duplication; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Sign.pept.	De novo by mother or grandpaternal germline mosaicism

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation	Died at the age of 12 yrs. Family HC8	Gu et al. (1996)

Year	Author	Title	Journal	Volume	Pages	Weblink
1996	Gu et al.	Five novel mutations in the L1CAM gene in families with X linked hydrocephalus	J. Med. Genet.	33	103-106	8929944