Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2934_2935delCA	p.His978GlnfsX25	Exon 22	Deletion; frameshift	Disease-causing	Surface site	n.a.	n.a.	n.a.	Fn 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus, ?	Index case: stillbirth? Uncle died within a few months after birth	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