Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001609.3:c.303+3A>G | 1 | |||
| NM_001609.3:c.763C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610006.1.1 | Eritrea | Neonatal hypoglycemia; Hypoxemia; Global developmental delay; Seizure; | Male | Yes | No | Compound heterozygous |