Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016373.4:c.107+3A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616211.5 | United Arab Emirates | Neonatal respiratory distress; Feeding difficulties; Clonic seizure; Talipes equinovarus; Hearing impairment; Spasticity; Patent ductus arteriosus; Patent foramen ovale; Polymicrogyria; Dysplastic corpus callosum; Global developmental delay; Abnormal facial shape | Male | Yes |