Disease ID | Source | Name | Description |
615516 | OMIM | Mental retardation, autosomal recessive 38 (MRT38) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT38 is characterized by global developmental delay affecting motor, speech, adaptive, and social development. Patients manifest autistic features, aggression, self-injury, impulsivity, and distractibility. The disease is caused by variants affecting the gene represented in this entry. |