| Disease ID | Source | Name | Description |
| 610042 | OMIM | Pitt-Hopkins-like syndrome 1 (PTHSL1) | A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. The disease is caused by variants affecting the gene represented in this entry. |
| 612100 | OMIM | Autism 15 (AUTS15) | A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Disease susceptibility is associated with variants affecting the gene represented in this entry. |