Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022786.2:c.294+1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617020.2.1 | Lebanon | Irritability; Abnormal involuntary eye movements; Hypotonia; Limb hypertonia; Dystonia; Respiratory tract infection; Seizure; Severe global developmental delay; Death in infancy | Female | No | Yes | Maternal grandmother had 2 male infants who died in the newborn period and 2 miscarriages of unknown cause |
| 617020.2.3 | Lebanon | Male | No | Father of patient 617020.2.1 |