Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018136.5:c.3742-1G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608716.10.2 | Saudi Arabia | Polymicrogyria; Abnormal hippocampus morphology ; Fusion of the left and right thalami ; Global developmental delay; Asthenia; Hypotonia ; Hypertonia ; EEG abnormality | Male | Yes | Yes | Sibling of 608716.10.1 |
| 608716.10.3 | Saudi Arabia | Polymicrogyria; Abnormal hippocampus morphology ; Fusion of the left and right thalami ; Global developmental delay; Asthenia; Hypotonia ; Hypertonia ; EEG abnormality | Female | Yes | Yes | Sibling of 608716.10.1 |
| 608716.10.4 | Saudi Arabia | Polymicrogyria; Abnormal hippocampus morphology ; Fusion of the left and right thalami ; Global developmental delay; Asthenia; Hypotonia ; Upper limb hypertonia; EEG abnormality | Male | Yes | Yes | Sibling of 608716.10.1 |