| Disease ID | Source | Name | Description |
| 618328 | OMIM | Developmental and epileptic encephalopathy 71 (DEE71) | A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life. The disease is caused by variants affecting the gene represented in this entry. |
| 618339 | OMIM | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) | An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis. The disease is caused by variants affecting the gene represented in this entry. |
| 618412 | OMIM | Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) | An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. The disease is caused by variants affecting the gene represented in this entry. |