| Disease ID | Source | Name | Description |
| 618076 | OMIM | Neurodevelopmental disorder with spasticity and poor growth (NEDSG) | An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities. The disease is caused by variants affecting the gene represented in this entry. |