Diseases of the nervous system
Episodic and paroxysmal disorders
X-linked
Xq22.1
Developmental and epileptic encephalopathy-9 (DEE9) is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 300088.1 | Saudi Arabia | Female | Yes | Intellectual disability; Specific learni... Intellectual disability; Specific learning disability; Developmental regression; Bilateral tonic-clonic seizure  | NM_001184880.2:c.577_578del | Heterozygous | X-linked | Monies et al. 2017 |