Reference details

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

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 2	Exon 6	c.604G>T	p.Asp202Tyr	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.604G>T	p.Asp202Tyr	Exon 6	(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia