120150.2

Saudi Arabia

Joint hypermobility; Abnormal facial shape; Cutis laxa; Blue sclerae; Neonatal respiratory distress; Hypotonia; Osteopenia

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000088.4:c.2050G>A	2		COL1A1-related Ehlers-Danlos Syndrome-like Disorder, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
120150.1	Saudi Arabia	Joint hypermobility; Wormian bones; Abnormal facial shape; Cutis laxa; Blue sclerae; Neonatal respiratory distress; Hypotonia; Persistent head lag; Brachycephaly	Male		Yes
120150.3	Saudi Arabia	Motor delay; Hypotonia; Hip dysplasia	Female		No	Patient's parents are from the same tribe.