| Disease ID | Source | Name | Description |
| 618606 | OMIM | Pontocerebellar hypoplasia 13 (PCH13) | A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable. The disease may be caused by variants affecting the gene represented in this entry. |