Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Sztriha et al.	2002	Pediatr. Neurol.	293-296	27	X-linked hydrocephalus: a novel missense mutation in the L1CAM gene	12435569

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 4	Exon 10	c.1243G>C	p.Ala415Pro	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	4	c.1243G>C	p.Ala415Pro	Exon 10	(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia