Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000050.4:c.1168G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
215700.1.1 | Morocco | Vomiting; Seizure; Lethargy | Unknown | Yes | Yes | Case 1 in the publication |