| Disease ID | Source | Name | Description |
| 618804 | OMIM | Sandestig-Stefanova syndrome (SANDSTEF) | An autosomal recessive syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital bilateral cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, specific brain changes such as loss of periventricular white matter, thin corpus callosum, and delayed myelinization. The disease is caused by variants affecting the gene represented in this entry. |