Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1547-13delC	p.?	Intron 12	RNA splicing defect	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	De novo by mother. Not detected in unaffected brother. A new splice acceptor site is predicted

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hydrocephalus, Mental retardation	Died at the age of 1 yr	Hubner et al (2004)

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Hubner et al	Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing	Hum Mutat	23(5)	526	15108295