225400.2.1

United Arab Emirates

Generalized hypotonia; Kyphosis; Joint laxity; Wrist drop; Delayed gross motor development

Female

Yes

Yes

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

Twin sister died of kidney problems in neonatal period

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
225400.2.2	United Arab Emirates	Generalized hypotonia; Joint laxity; Kyphoscoliosis; Wrist drop; Pectus excavatum; Delayed gross motor development	Female	Yes	Yes	Second cousin of 225400.2.1