| Disease ID | Source | Name | Description |
| 619005 | OMIM | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) | An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. The disease is caused by variants affecting the gene represented in this entry. |
| 619004 | OMIM | DEEAH syndrome (DEEAH) | An autosomal recessive disorder characterized by moderate to severe global developmental delay, impaired intellectual development, poor or absent speech, and endocrine, pancreatic exocrine and autonomic dysfunction, as well as hematologic abnormalities. Additional features include facial dysmorphism, seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur. The disease is caused by variants affecting the gene represented in this entry. |