| Disease ID | Source | Name | Description |
| 300271 | OMIM | Mental retardation, X-linked 72 (MRX72) | 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 X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. The disease is caused by variants affecting the gene represented in this entry. |
| 311510 | OMIM | Waisman syndrome (WSMN) | A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. The disease is caused by variants affecting the gene represented in this entry. Its association with Parkinson disease is however unclear (PubMed:26739247, PubMed:27459931). According to a number of studies, variations affecting this gene are not a frequent cause of Parkinson disease, suggesting that RAB39B does not play a major role in Parkinson disease etiology (PubMed:26739247, PubMed:27459931). |