Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal dominant
2q24.3
Developmental and epileptic encephalopathy-62 (DEE62) is a severe neurologic disorder characterized by the onset of various types of refractory seizures in the first weeks or months of life. Affected individuals have severe to profound developmental delay with hypotonia and impaired motor and cognitive development. Additional features may include spasticity, microcephaly, and brain imaging abnormalities.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617938.1 | United Arab Emirates | Female | No | No | Polymicrogyria; Microcephaly; Severe glo... Polymicrogyria; Microcephaly; Severe global developmental delay; Generalized hypotonia; Persistent head lag; Spastic tetraplegia; Inability to walk; Absent speech; Feeding difficulties; Drooling; Scoliosis  | NM_006922.4:c.2624T>C | Heterozygous | Autosomal, Dominant | Smith et al. 2018 |