Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal recessive
21q22.11
Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617389.1.1 | Oman; United Arab Emir... | Female | Yes | Yes | Seizure; Global developmental delay; Hyp... Seizure; Global developmental delay; Hypotonia; Absent speech; Hypsarrhythmia; Scoliosis  | NM_003895.3:c.709C>T | Homozygous | Autosomal, Recessive | Al Zaabi et al. 2018 | Emirati of Omani ori... |
| 617389.1.2 | Oman; United Arab Emir... | Female | Yes | Yes | Seizure; Global developmental delay; Hyp... Seizure; Global developmental delay; Hypotonia; Absent speech; Hypsarrhythmia; Cerebral atrophy | NM_003895.3:c.709C>T | Homozygous | Autosomal, Recessive | Al Zaabi et al. 2018 | Relative of 617389.1... |