| Disease ID | Source | Name | Description |
| 614080 | OMIM | Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) | An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. The disease is caused by variants affecting the gene represented in this entry. |