Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.(?_-145)_76+?del	p.0	Exon 1	Deletion	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	32.7 kb deletion from AVPR2 exon 2 to L1CAM intron 1. De novo by mother

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia	HSAS with Nephrogenic Diabetes Insipidus. Died at age of 89 days.	Tegay et al. (2007)

Year	Author	Title	Journal	Volume	Pages	Weblink
2007	Tegay et al.	Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus	Am J med Genet A	143(6)	594-598	17318848