| Disease ID | Source | Name | Description |
| 618890 | OMIM | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) | An autosomal recessive disorder characterized by global developmental delay, brain abnormalities, mainly ventriculomegaly and/or brain atrophy, intellectual disability, absent speech, peripheral spasticity, and microcephaly. Additional variable features include early-onset seizures, optic atrophy, and dysmorphic facial features. Early death may occur. The disease is caused by variants affecting the gene represented in this entry. |