| Disease ID | Source | Name | Description |
| 618504 | OMIM | Intellectual developmental disorder, autosomal recessive 71 (MRT71) | 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. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities. The disease is caused by variants affecting the gene represented in this entry. |