| Disease ID | Source | Name | Description |
| 618889 | OMIM | Liberfarb syndrome (LIBF) | An autosomal recessive multisystem disorder affecting the eye, ear, bone, and brain development. Clinical features include early-onset retinal degeneration, congenital cataracts, sensorineural hearing loss, microcephaly, intellectual disability, white matter changes, mild facial dysmorphism, and skeletal dysplasia with platyspondyly, scoliosis and short stature. The disease is caused by variants affecting the gene represented in this entry. |