620727.G.1

Saudi Arabia

Joint hypermobility; Generalized hypotonia; Delayed gross motor development; Microcephaly; Failure to thrive

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001849.4:c.1459-63G>A	6		Ullrich congenital muscular dystrophy 1B

3 patients - proband and her cousins