Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000401.3:c.110C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616682.1.1 | Syria | Global developmental delay; Hypotonia; Seizure; Intellectual disability; Microcephaly; Failure to thrive; | Male | Yes | Yes | Proband. Variant also described as NM_207122.1:c.11C>T and NP_997005.1:p.Ser4Leu |