Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017653.6:c.1878del | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
223801.14 | Egypt | Intellectual disability; Abnormality of the vertebral column; Failure to thrive; Microcephaly | Female | Yes | Yes | |
223801.15 | Egypt | Intellectual disability; Abnormality of the vertebral column; Failure to thrive; Microcephaly | Male | Yes | Yes | |
223801.16 | Egypt | Failure to thrive; Profound global developmental delay; Coarse facial features | Female | Yes | Yes | |
223801.17 | Egypt | Intellectual disability; Abnormality of the vertebral column; Failure to thrive; Microcephaly | Female | Yes |