Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005984.5:c.205G>T | 2 | 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 |
618197.1.2 | United Arab Emirates | Bilateral ptosis; Easy fatigability; Increased muscle fatiguability | Male | Yes | Yes | 'Patient III-10' in the publication, relative of 618197.1.1 |
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 |