| Disease ID | Source | Name | Description |
| 615541 | OMIM | Mental retardation, autosomal recessive 39 (MRT39) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements. The disease is caused by variants affecting the gene represented in this entry. |