Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.88delC	p.His30MetfsX2	Exon 2	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	None

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia	> 5 years old	Moya et al. (2002)

Year	Author	Title	Journal	Volume	Pages	Weblink
2002	Moya et al.	Prenatal diagnosis of L1 cell adhesion molecule mutations	Fetal Diagn. Ther.	17	115-119	11844917