| Disease ID | Source | Name | Description |
| 611090 | OMIM | Mental retardation, autosomal recessive 12 (MRT12) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry. |
| 615006 | OMIM | Developmental and epileptic encephalopathy 15 (DEE15) | A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome. The disease is caused by variants affecting the gene represented in this entry. |