229200.G.1

Saudi Arabia

Blue sclerae; Joint hypermobility; Kyphoscoliosis; Thin skin; Hallux valgus; Arachnodactyly; Sensorineural hearing impairment

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001367624.2:c.8901_8914dup	10		Brittle Cornea Syndrome 1

Group of five siblings. One of the siblings had milder symptoms with phenylketonuria.