| Disease ID | Source | Name | Description |
| 618402 | OMIM | Intellectual developmental disorder, autosomal recessive 70 (MRT70) | A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients. The disease is caused by variants affecting the gene represented in this entry. |