Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.77-?_591delins41	p.?	Intron 1	Deletion	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Deletion of exons 2, 3, 4, 5, and part of exon 6. De novo by grandmother

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hydrocephalus	Terminated pregnancy at 24 weeks	Panayi et al (2005)

Year	Author	Title	Journal	Volume	Pages	Weblink
2005	Panayi et al	Prenatal diagnosis in a family with X-linked hydrocephalus	Prenat Diagn	25(10)	930-933	16088863