| Disease ID | Source | Name | Description |
| 618453 | OMIM | Intellectual developmental disorder with short stature and variable skeletal anomalies (IDDSSA) | An autosomal recessive disorder characterized by severe mental retardation, speech and language impairment, developmental delay, and cardiac, thyroid and skeletal abnormalities. Skeletal features include short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities. The disease is caused by variants affecting the gene represented in this entry. |