| Disease ID | Source | Name | Description |
| 609924 | OMIM | Aminoacylase-1 deficiency (ACY1D) | An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. The disease is caused by variants affecting the gene represented in this entry. |