Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004870.3:c.310G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609180.1.1 | Yemen | Congenital hypothyroidism; Congenital adrenal hyperplasia; Seizure; Global developmental delay; Hypotonia; Strabismus; Lichenification; Brain atrophy; Dilated cardiomyopathy; Patent ductus arteriosus | Female | Yes | Yes | |
| 609180.1.2 | Yemen | Global developmental delay; Hypotonia; Strabismus; Visual impairment; Hypopigmentation of the fundus; Scaling skin; Dry skin; Eczema; Brain atrophy | Male | Yes | Yes | Brother of 609180.1.1 |
| 609180.1.3 | Yemen | Male | Father of 609180.1.1 |