| Disease ID | Source | Name | Description |
| 616819 | OMIM | Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia (CCAFCA) | An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. The disease is caused by variants affecting the gene represented in this entry. |