166200.2

Egypt

Osteopenia

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000088.4:c.2299G>A	1	NA	Osteogenesis Imperfecta, Type I

De novo mutation

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
166200.1	Egypt	Osteopenia; Recurrent fractures	Female		No
166200.5	Egypt	Hypotonia; Microcephaly; Osteopenia; Abnormal facial shape; Failure to thrive	Female	Yes	Yes