Disease ID | Source | Name | Description |
618480 | OMIM | Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) | An autosomal recessive disorder characterized by global developmental delay with intellectual disability and poor speech acquisition, and walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Additional features include seizures, mild dysmorphic features, and variable short stature. The disease is caused by variants affecting the gene represented in this entry. |