| Disease ID | Source | Name | Description |
| 301032 | OMIM | Basilicata-Akhtar syndrome (MRXSBA) | A mental retardation syndrome characterized by global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry. |