| Disease ID | Source | Name | Description |
| 256520 | OMIM | Neu-Laxova syndrome 1 (NLS1) | A lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies including lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. The disease is caused by variants affecting the gene represented in this entry. |
| 601815 | OMIM | Phosphoglycerate dehydrogenase deficiency (PHGDHD) | An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures. The disease is caused by variants affecting the gene represented in this entry. |