Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal recessive
16q23.1-q23.2
Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616211.1.1 | United Arab Emirates | Male | No | Yes | Seizure; Horizontal nystagmus; Flexion c... Seizure; Horizontal nystagmus; Flexion contracture; Hand clenching; Spasticity; Hyperreflexia; Inguinal hernia; Hypsarrhythmia; Cerebral atrophy; Polymicrogyria; Optic atrophy; Unilateral deafness  | NM_016373.3:c.410-17474_516+10296del | Homozygous | Autosomal, Recessive | Ben-Salem et al. 2015 | |
| 616211.2 | United Arab Emirates | Male | No | Yes | Seizure; Infantile spasms; Spasticity; G... Seizure; Infantile spasms; Spasticity; Global developmental delay; Failure to thrive; Dysphagia | NM_016373.4:c.107+3A>G | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | |
| 616211.3.1 | United Arab Emirates | Male | Yes | Yes | Failure to thrive; Secondary microcephal... Failure to thrive; Secondary microcephaly; Severe global developmental delay; Abnormal visual fixation; Absent speech; Axial hypotonia; Hypertonia; Hypokinesia; Optic atrophy; Hypsarrhythmia; Epileptic spasm; Seizure | NM_016373.4:c.(?_173)_(409_?)del | Homozygous | Autosomal, Recessive | Shaukat et al. 2018 | Deletion variant har... |
| 616211.4.1 | United Arab Emirates | Male | Yes | Yes | Hypertonia; Seizure; Hypsarrhythmia; Epi... Hypertonia; Seizure; Hypsarrhythmia; Epileptic spasm; Spasticity; Global developmental delay; Ventilator dependence with inability to wean; Axial hypotonia; Hyperreflexia; Failure to thrive; Secondary microcephaly | NM_016373.4:c.606-1G>A | Homozygous | Autosomal, Recessive | Shaukat et al. 2018 | |
| 616211.5 | United Arab Emirates | Male | Yes | Neonatal respiratory distress; Feeding d... Neonatal respiratory distress; Feeding difficulties; Clonic seizure; Talipes equinovarus; Hearing impairment; Spasticity; Patent ductus arteriosus; Patent foramen ovale; Polymicrogyria; Dysplastic corpus callosum; Global developmental delay; Abnormal facial shape | NM_016373.4:c.606-1G>A | Homozygous | Autosomal, Recessive | Alabdullatif et al. 2017 |