Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_025139.6:c.1559C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617622.2.2 | Saudi Arabia | Global developmental delay; Ptosis; Molar tooth sign on MRI; Superior cerebellar dysplasia; Thick corpus callosum; Apnea; Tachypnea | Male | Yes | Affected relative of the proband. | |
617622.2.3 | Saudi Arabia | Male | Healthy father of 617622.2.1 |