Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal dominant
4p16.3
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 134934.1 | United Arab Emirates | Male | Yes | No | Seizure; Gastritis Seizure; Gastritis  | NM_000142.5:c.749C>G | Heterozygous | Autosomal, Dominant | Mahfouz et al. 2020 |