Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_181783.4:c.211C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617218.1.1 | Lebanon | Global developmental delay; Generalized hypotonia; Delayed puberty; Chiari type I malformation | Female | Yes | Yes | |
617218.1.2 | Lebanon | Global developmental delay; Generalized hypotonia; Delayed puberty; Nocturnal seizures; Autistic behavior; Ataxia | Female | Yes | Yes | Sibling of 617218.1.1 |
617218.1.3 | Lebanon | Female | Mother of 617218.1.1 |