Disease ID | Source | Name | Description |
300814 | OMIM | Nystagmus congenital X-linked 6 (NYS6) | A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. The disease is caused by variants affecting the gene represented in this entry. |
300500 | OMIM | Albinism ocular 1 (OA1) | Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. The disease is caused by variants affecting the gene represented in this entry. |