Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006182.4:c.2468_2469del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 271665.2.1 | Oman | Short stature; Microcephaly; Wide anterior fontanel; Alopecia; Limb undergrowth; Madelung deformity; Limited elbow extension; Tibial bowing; Pectus excavatum; Thoracic scoliosis; Coarse facial features; Moderate conductive hearing impairment | Male | Yes | Yes | Similarly affected sister |
| 271665.2.3 | Oman | Female | Mother of 271665.2.1 |