Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.604G>T	p.Asp202Tyr	Exon 6	Missense	Disease-causing	Surface site	Not tolerated	Probably damaging	Highly	Ig 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia		Sztriha et al. (2000)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Sztriha et al.	Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus	J. Child Neurol.	15(4)	239-243	10805190