Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002408.3:c.693del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
212066.1.1 | Lebanon | Intellectual disability; Abnormal facial shape; Failure to thrive; Microcephaly; Decreased sialylated N-glycan level | Female | Yes | ||
212066.1.3 | Lebanon | Male | Father of 212066.1.1 |