Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005984.5:c.205G>T | 2 | NA | ||
| NM_000080.4:c.1314G>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618197.1.1 | United Arab Emirates | Failure to thrive; Bilateral ptosis; Hypoglycemia; Easy fatigability; Systolic heart murmur; Lumbar hyperlordosis; Pes planus | Female | Yes | Yes | Index patient - 'patient IV-1' in the publication |
| 618197.1.3 | United Arab Emirates | Bilateral ptosis; Easy fatigability; Esotropia; Facial diplegia; Abnormality of eye movement | Female | Yes | Yes | Relative of 618197.1.1 |
| 618197.1.4 | United Arab Emirates | Bilateral ptosis; Easy fatigability; Increased muscle fatiguability | Male | Yes | Yes | 'Patient III-11' in the publication, relative of 618197.1.1 |