Oculocerebral Syndrome with Hypopigmentation
| Disorder | |
|---|---|
| OMIM #: | %257800 (Click to access OMIM database) |
| Disorder: | Oculocerebral Syndrome with Hypopigmentation |
| Also known as: | CROSS SYNDROME, KRAMER SYNDROME |
| Clinical | |
| Phenotype: | hypopigmented skin, spasticity, developmental delay, growth deficiency, ocular anomalies, nystagmus, microphthalmos, cataracts |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-11 |
| References |
|---|
| Cross HE, McKusick VA, and Breen W. (1967) A new oculocerebral syndrome with hypopigmentation. J Pediatr 70(3): 398-406. PubMed ID: 4959856 |
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