eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | coloboma, ocular |
| Comorbidity | C0004134|ataxia |
| Sentences | 2 |
| PubMedID- 22790627 | Besides chf, we recognized oligophrenia, cerebellar ataxia, hypoplasia of cerebellar vermis and coloboma, leading to the diagnosis of coach syndrome. |
| PubMedID- 23056693 | The clinical features seen in tecto-cerebellar dysraphia with occipital encephalocele include episodic tachypnea and irregular breathing, opsoclonus, ataxia, marked hypotonia of the limbs, coloboma, and polydactyly[3]. |
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