Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001079537.2:c.23T>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617862.1.1 | Lebanon | Microcephaly; Intellectual disability; Hypotonia; Lactic acidosis; Hypoplasia of the corpus callosum; Periventricular leukomalacia | Male | No | Yes | Proband |