| Disease ID | Source | Name | Description |
| 618451 | OMIM | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia (NDCAMA) | An autosomal recessive disorder characterized by severe neurological and extra-neurological manifestations. Clinical features include early-onset global developmental delay, absent speech, dystonia, spasticity, choreoathetoid movement disorder, seizures, and microcytic hypochromic anaemia unresponsive to iron supplementation. The disease is caused by variants affecting the gene represented in this entry. |