Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Coucke et al.	1994	Hum. Mol. Genet.	671-673	3	Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family	8069317

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 4	c.400+5G>C	p.Phe108CysfsX92	RNA splicing defect	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Unknown	c.400+5G>C	p.Phe108CysfsX92	Intron 4	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia