Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_177924.5:c.505T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228000.2.1 | United Arab Emirates | Failure to thrive in infancy; Global developmental delay; Cherry red spot of the macula; Arthralgia; Limitation of joint mobility; Hoarse voice; | Female | Yes | No | The patient had a deceased sibling with a similar presentation |
| 228000.2.2 | United Arab Emirates | Male | Yes | Father of 228000.2.1 |