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Mutations in paired-like homeobox 2 B (<jats:italic>PHOX2B<\/jats:italic>) are responsible for most cases of CCHS. Patients with CCHS have various phenotypes and severities, making the diagnosis difficult. This study aimed to present a comprehensive single-center experience of patients with CCHS, including key clinical features, treatment strategies, and outcomes.\u00a0A retrospective chart review was performed for patients diagnosed with CCHS between January 2001 and July 2023 at Seoul National University Children\u2019s Hospital. Finally, we selected 24 patients and collected their demographic data, genotypes, ventilation methods, and clinical features related to autonomic dysfunction. The relationship between the clinical manifestations and genotypes was also examined.\u00a0All patients used home ventilators, and tracheostomy was performed in 87.5% of patients. Fifteen (62.5%) patients had constipation and nine (37.5%) were diagnosed with Hirschsprung disease. Arrhythmia, endocrine dysfunction, and subclinical hypothyroidism were present in nine (37.5%), six patients (25.0%), and two patients (16.7%), respectively. A significant number of patients exhibited neurodevelopmental delays (19 patients, 79.2%). There was a correlation between the phenotype and genotype of <jats:italic>PHOX2B<\/jats:italic> in patients with CCHS. (r\u2009=\u20090.71, p\u2009&lt;\u20090.001).<\/jats:p><jats:p>\u00a0 \u00a0<jats:italic>Conclusion<\/jats:italic>: There was a positive correlation between paired-like homeobox 2 B mutations (especially the number of GCN repeats in the polyalanine repeat mutations sequence) and clinical manifestations. This study also demonstrated how initial treatment for hypoventilation affects neurodevelopmental outcomes in patients with CCHS.\n<jats:table-wrap><jats:table><jats:tbody>\n                    <jats:tr>\n                      <jats:td align=\"left\" colspan=\"2\"><jats:bold>What is Known:<\/jats:bold><jats:italic>\u2022 Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation and dysfunction of autonomic nervous system.<\/jats:italic><jats:italic>\u2022 The disease-defining gene of CCHS is<\/jats:italic><jats:italic>PHOX2B<\/jats:italic><jats:italic>gene \u2013 most of the cases have heterozygous PARMs and the number of GCN triplets varies among the patients(20\/24 \u2013 20\/33).<\/jats:italic><\/jats:td>\n                    <\/jats:tr>\n                    <jats:tr>\n                      <jats:td align=\"left\" colspan=\"2\"><jats:bold>What is New:<\/jats:bold><jats:italic>\u2022 We have noted in the Korean patients with CCHS that there is a correlation between genotype (number of GCN repeats) and severity of phenotype.<\/jats:italic><jats:italic>\u2022 National support for rare diseases allowed for a prompter diagnosis of patients with CCHS in Korean population.<\/jats:italic><\/jats:td>\n                    <\/jats:tr>\n                  <\/jats:tbody><\/jats:table><\/jats:table-wrap><\/jats:p>","DOI":"10.1007\/s00431-024-05611-6","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T06:02:31Z","timestamp":1716444151000},"page":"3479-3487","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Congenital central hypoventilation syndrome in korea: 20\u00a0years of clinical observation and evaluation of the ventilation strategy in a single center"],"prefix":"10.1007","volume":"183","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3900-7352","authenticated-orcid":false,"given":"Min Jeong","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0522-7736","authenticated-orcid":false,"given":"Ji Soo","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyunghoon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0407-7828","authenticated-orcid":false,"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8113-1384","authenticated-orcid":false,"given":"June Dong","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7817-8728","authenticated-orcid":false,"given":"Dong In","family":"Suh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,23]]},"reference":[{"issue":"3","key":"5611_CR1","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1042\/CS20040282","volume":"108","author":"H Trang","year":"2005","unstructured":"Trang H, Girard A, Laude D, Elghozi JL (2005) Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine\u2019s curse). 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