Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal recessive
1p34.2
Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615476.1 | Lebanon | Female | Yes | Ataxia; Hypotonia; Global developmenta... Ataxia; Hypotonia; Global developmental delay; Motor delay; Oligohydramnios; Delayed speech and language development; Intellectual disability; Blue irides  | NM_015284.4:c.7341-2G>A | Homozygous | Autosomal, Recessive | Nair et al. 2018 |