disease has basis in disruption of disease caused by disruption of N-acetyltransferase activity Ogden syndrome https://github.com/monarch-initiative/mondo/issues/1567 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6227 https://www.malacards.org/card/ogden_syndrome premature ageing appearance-developmental delay-cardiac arrhythmia syndrome N-terminal acetyltransferase deficiency GARD:0017281 NAT1 deficiency Acetyl-CoA:arylamine n-acetyltransferase Editor note: check GARD N acetyltransferase deficiency MESH:C536107 UMLS:C3275447 Orphanet:276432 Ogden syndrome, X-linked recessive, X-linked dominant HGNC:7645 OGDNS DOID:0050781 Ogden syndrome NCIT:C188215 N acetyltransferase 1 deficiency MONDO:0010457 arylamine n-acetyltransferase 1 MEDGEN:477078 OMIM:300855 Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. premature aging appearance-developmental delay-cardiac arrhythmia syndrome progeroid syndrome disorder of development or morphogenesis NAA10-related syndrome