Male
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017668.3:c.658C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614019.5 | Saudi Arabia | Pachygyria; Abnormal cortical gyration; Agenesis of corpus callosum; Abnormality of neuronal migration; Global developmental delay | Female | No | Yes |