Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022154.5:c.338G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616721.1.1 | Lebanon | Global developmental delay; Limb hypertonia; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Peripheral axonal neuropathy; Broad forehead; Hirsutism; Anteverted nares; Thin vermilion border; Smooth philtrum | Female | Yes | Yes | Proband |
| 616721.1.2 | Lebanon | Profound global developmental delay; Psychomotor retardation; Seizure; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Scoliosis; Broad forehead | Female | Yes | Yes | Sister of 616721.1.1 |
| 616721.1.3 | Lebanon | Male | Yes | Father of 616721.1.1 | ||
| 616721.1.4 | Lebanon | Female | Yes | Mother of 616721.1.1 |