610915.5.2

Oman

Hypertelorism; Microganathia; Small anterior fontanelle; Joint hypermobility

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_022356.4:c.2056-1G>A	2	NA	Osteogenesis Imperfecta, Type VIII

Relative of 610915.5.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610915.5.1	Oman	Hypertelorism; Microganathia; Small anterior fontanelle; Joint hypermobility	Male	Yes	Yes
610915.5.3	Oman	Hypertelorism; Microganathia; Small anterior fontanelle; Joint hypermobility	Female	Yes	Yes	Relative of 610915.5.1