Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000824.5:c.596T>G | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614619.1.1 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology | Male | Yes | Yes | 'Patient 1' from 'Family 1' in the publication |
614619.1.2 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology; Strabismus; Myopic astigmatism | Female | Yes | Yes | 'Patient 2' from 'Family 1' in the publication |
614619.1.3 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology; Myopic astigmatism; Esotropia | Female | Yes | Yes | 'Patient 3' from 'Family 1' in the publication |
614619.1.4 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology; Myopic astigmatism; Esotropia | Female | Yes | Yes | 'Patient 4' from 'Family 1' in the publication |
614619.1.5 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology; Myopic astigmatism; Esotropia | Male | Yes | Yes | 'Patient 5' from 'Family 2' in the publication |
614619.1.7 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology; Esotropia; Delayed speech and language development; Hyperopic astigmatism; Behavioral abnormality | Female | Yes | Yes | 'Patient 7' from 'Family 2' in the publication |
614619.1.8 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology | Female | Yes | Yes | 'Patient 8' from 'Family 2' in the publication |
614619.1.9 | Saudi Arabia | Increased fetal movement; Abnormal muscle physiology; EEG abnormality; Delayed speech and language development; Esotropia; Myopic astigmatism; Attention deficit hyperactivity disorder | Male | Yes | Yes | 'Patient 9' from 'Family 3' in the publication |