| Disease ID | Source | Name | Description |
| 618479 | OMIM | Cerebellar, ocular, craniofacial, and genital syndrome (COFG) | An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis. The disease is caused by variants affecting the gene represented in this entry. |