Diseases of the nervous system
Autosomal recessive
11p15.4
Developmental and epileptic encephalopathy-49 (DEE49) is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617281.1.1 | Saudi Arabia | Female | Yes | Yes | Seizure; Facial tics; Involuntary moveme... Seizure; Facial tics; Involuntary movements; Global developmental delay; Spastic tetraplegia; Absent speech; Microcephaly; Dandy-Walker malformation; Aplasia/Hypoplasia of the cerebellar vermis; Hydrocephalus; Basal ganglia calcification  | NM_015213.4:c.517_518del | Homozygous | Autosomal, Recessive | Han et al. 2016 | Patient from 'family... |
| 617281.1.2 | Saudi Arabia | Female | Yes | Yes | Seizure; Microcephaly; Hydrocephalus; Ba... Seizure; Microcephaly; Hydrocephalus; Basal ganglia calcification; Exaggerated startle response; Startle-induced seizure; Arachnoid cyst; Agenesis of corpus callosum; Ventriculomegaly | NM_015213.4:c.517_518del | Homozygous | Autosomal, Recessive | Han et al. 2016 | Sister of 617281.1.1 |
| 617281.2 | Jordan | Female | Yes | Yes | Seizure; Global developmental delay; Mic... Seizure; Global developmental delay; Microcephaly; Poor speech; Anxiety; Hyperactivity; Cerebral calcification | NM_015213.4:c.2547del | Homozygous | Autosomal, Recessive | Han et al. 2016 | Patient from 'family... |