| Disease ID | Source | Name | Description |
| 616901 | OMIM | Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) | An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies. The disease is caused by variants affecting the gene represented in this entry. |