ICD-10: E74.12

monogenic disease obsolete genetic disorder Alstrom syndrome Gamstorp-Wohlfart syndrome glycogen storage disease XV variable age at onset electroclinical syndrome AGAT deficiency vitamin metabolic disorder PHGDH deficiency PSAT deficiency autosomal dominant disease autosomal recessive disease Y-linked monogenic disease adenylosuccinase lyase deficiency Kahrizi syndrome renal-hepatic-pancreatic dysplasia MEDNIK syndrome Yunis-Varon syndrome congenital diarrhea hereditary fructose intolerance syndrome