Disease ID | Source | Name | Description |
606220 | OMIM | Intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) | An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations. The disease is caused by variants affecting the gene represented in this entry. |