| Disease ID | Source | Name | Description |
| 618635 | OMIM | Siddiqi syndrome (SIDDIS) | An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy. The disease is caused by variants affecting the gene represented in this entry. |