Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018136.5:c.2389C>T | 1 | |||
NM_018136.5:c.7781_7782del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
608716.1.1 | Algeria | Microcephaly; Simplified gyral pattern; Intellectual disability, profound | Male | Yes | Yes | |
608716.1.2 | Algeria | Microcephaly; Simplified gyral pattern; Intellectual disability, mild | Male | Yes | Yes | Sibling of 608716.1.1 |
608716.1.4 | Algeria | Female | Mother of 608716.1.1 | |||
608716.1.5 | Algeria | Male | Father of 608716.1.1 |