| Disease ID | Source | Name | Description |
| 615905 | OMIM | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) | An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients. The disease is caused by variants affecting the gene represented in this entry. |