| Disease ID | Source | Name | Description |
| 617988 | OMIM | Jaberi-Elahi syndrome (JABELS) | An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum. The disease may be caused by variants affecting the gene represented in this entry. |