Disease ID | Source | Name | Description |
618970 | OMIM | Cone-rod synaptic disorder syndrome, congenital non-progressive (CRSDS) | An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis. The disease is caused by variants affecting the gene represented in this entry. |