Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.645C>T	p.=	Exon 6	RNA splicing defect	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 2	Splice defect: 51 bp deleted at the 3'site of exon 6. Proven germline mosaicism by mother

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus		Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2010	Vos et al.	Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis	J.Med.Genet	47(3)	169-175	19846429