Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001085427.2:c.827C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
250100.2.2 | Lebanon | Global developmental delay; Behavioral abnormality | Female | Yes | Yes | |
250100.2.3 | Lebanon | Global developmental delay; Behavioral abnormality | Female | Yes | Yes |