Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000478.6:c.407G>A | 1 | NA | ||
| NM_000478.6:c.1540G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 241500.5 | United Arab Emirates | Low-set ears; Redundant skin; Narrow chest; Generalized bone demineralization | Female | Yes |