| Disease ID | Source | Name | Description |
| 610992 | OMIM | Phosphoserine aminotransferase deficiency (PSATD) | Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry. |
| 616038 | OMIM | Neu-Laxova syndrome 2 (NLS2) | A form of Neu-Laxova syndrome, 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. These include 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. |