Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016373.4:c.(?_173)_(409_?)del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616211.3.1 | United Arab Emirates | Failure to thrive; Secondary microcephaly; Severe global developmental delay; Abnormal visual fixation; Absent speech; Axial hypotonia; Hypertonia; Hypokinesia; Optic atrophy; Hypsarrhythmia; Epileptic spasm; Seizure | Male | Yes | Yes | Deletion variant harbored involves exons 3 to 4. The patient had two cousins with spasticity and profound developmental delay. They required ventilation and one died at 4 years of age. |
| 616211.3.3 | United Arab Emirates | Female | Mother of 616211.3.1 |