| Disease ID | Source | Name | Description |
| 618651 | OMIM | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies (NEDSOSB) | An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum. The disease may be caused by variants affecting the gene represented in this entry. |