Also, homozygous loss of SNAP29 results in various symptoms of the CEDNIK syndrome, (Cerebral Dysgenesis, Neuropathy, Ichtyosis, and Keratoderma), but only facial anomalies are shared symptoms with DGS190; Patients with biallelic mutations in the mitochondrial membrane transporter SLC25A1 gene show facial dysmorphism but the main severe symptoms of combined D-2- and L-2-hydroxyglutaric aciduria, a rare neurometabolic disorder characterized by hypotonia, respiratory insufficiency, and severe neurodevelopmental dysfunction are not included in DGS. The gene discussed is SNAP29; the disease is CEDNIK syndrome.