Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198525.3:c.3179A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607131.1.1 | Oman | Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia; Lymphedema | Male | Yes | Yes | |
| 607131.1.2 | Oman | Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia; Lymphedema | Female | Yes | Yes | Sibling of 607131.1.1 |
| 607131.1.3 | Oman | Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia | Male | Yes | Yes | Sibling of 607131.1.1 |
| 607131.1.4 | Oman | Macrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia | Male | Yes | Yes | Sibling of 607131.1.1 |
| 607131.1.6 | Oman | Male | Father of 607131.1.1 | |||
| 607131.1.7 | Oman | Female | Mother of 607131.1.1 |