| Disease ID | Source | Name | Description |
| 617967 | OMIM | Hydrocephalus, congenital, 3, with brain anomalies (HYC3) | A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC3 features include enlarged ventricles, hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker malformation. Most patients die in utero or shortly after birth. HYC3 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 610185 | OMIM | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) | A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry. |