Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001014796.3:c.2254C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
271665.1.1 | Egypt | Short long bone; Metaphyseal dysplasia; Epiphyseal dysplasia; Flared iliac wing; Pulmonary fibrosis | Female | Yes | Yes | |
271665.1.3 | Egypt | Male | Father of 271665.1.1 | |||
271665.1.4 | Egypt | Female | Mother of 271665.1.1 |