Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024596.4:c.1_114del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
251200.2.1 | Saudi Arabia | Global developmental delay; Lissencephaly; Abnormality of neuronal migration | Male | Yes | Yes |