225400.3

United Arab Emirates

Generalized hypotonia; Kyphosis; Joint laxity; Wrist drop; Acetabular dysplasia; Dural ectasia; Delayed gross motor development

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000302.4:c.955C>T	2		Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1