| Disease ID | Source | Name | Description |
| 609056 | OMIM | Salt and pepper developmental regression syndrome (SPDRS) | A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities. The disease is caused by variants affecting the gene represented in this entry. |