Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.(?_-145_(*731_?)del	p.0	All	Deletion entire gene	Disease-causing	n.a.	n.a.	n.a.	n.a.	All	De novo or germ line mosaicism

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation	> 5 year	Knops et al. (2008)

Year	Author	Title	Journal	Volume	Pages	Weblink
2008	Knops et al.	Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2	Am J med Genet A	146A	1853-1858	18553546