Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002538.4:c.514dup | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
251290.1.1 | Saudi Arabia | Lissencephaly; Abnormality of neuronal migration; Severe postnatal growth retardation | Male | Yes | Yes |