| Disease ID | Source | Name | Description |
| 617193 | OMIM | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) | An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia. The disease is caused by variants affecting the gene represented in this entry. |