Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2432-19A>C	p.?	Intron 18	Branch point	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Proven aberrantly spliced mRNA. Segregation of the mutation with the disease. Insertion of 19 a.a.? Deletion of 116bp?

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia		Rosenthal et al. (1992)

Year	Author	Title	Journal	Volume	Pages	Weblink
1992	Rosenthal et al.	Aberrant splicing of neural cell adhesion molecule L1 messenger RNA in a family with X-linked hydrocephalus	Nat. Genet.	2	107-112	1303258