Reference details

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

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
All	All	c.(?_-145_(*731_?)del	p.0	Deletion entire gene	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.(?_-145_(*731_?)del	p.0	All	Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation	> 5 year