Disease #00900 (CCHS (syndrome, hypoventilation, central, congenital (CCHS, Haddad syndrome, Ondine-Hirschsprung disease)), OMIM:209880)

Official abbreviation CCHS
Name syndrome, hypoventilation, central, congenital (CCHS, Haddad syndrome, Ondine-Hirschsprung disease)
OMIM ID 209880
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 99
Phenotype entries for this disease 99
Associated with 6 genes ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET
Associated tissues -
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Remarks -


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99 entries on 1 page. Showing entries 1 - 99.
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00081481 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (esophageal dysmotility), no Hirschsprung disease (-HP:0002251), no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081482 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B GDNF, PHOX2B 2 1 Johan den Dunnen
00081483 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); constipation; no tumour PHOX2B - 0 1 Johan den Dunnen
00081484 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B - 0 1 Johan den Dunnen
00081485 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B - 0 1 Johan den Dunnen
00081486 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B - 0 1 Johan den Dunnen
00081487 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability); constipation; no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081488 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081489 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081490 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081491 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081492 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081493 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081494 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081495 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081496 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); tumour PHOX2B - 0 1 Johan den Dunnen
00081497 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081498 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081499 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, SS); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081500 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS constipation; no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081501 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS Hirschsprung disease (HP:0002251); no tumour PHOX2B - 0 1 Johan den Dunnen
00081502 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour PHOX2B PHOX2B, RET 2 1 Johan den Dunnen
00081503 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability); Hirschsprung disease (HP:0002251, LS); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081504 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, SS); no tumour PHOX2B - 0 1 Johan den Dunnen
00081505 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS Hirschsprung disease (HP:0002251, LS); no tumour PHOX2B - 0 1 Johan den Dunnen
00081506 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - 0 - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour PHOX2B - 0 1 Johan den Dunnen
00081507 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS Hirschsprung disease (HP:0002251); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081508 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS autonomic nervous system dysfunction (abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251); tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081509 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - CCHS Hirschsprung disease (HP:0002251, LS); no tumour PHOX2B PHOX2B 1 1 Johan den Dunnen
00081510 - PubMed: Antic 2006, Journal: Antic 2006 2-generation family, 3 affecteds,mother/2 children - - United Kingdom (Great Britain) - - 0 - - CCHS see paper; … PHOX2B PHOX2B 1 3 Johan den Dunnen
00081511 - PubMed: Antic 2006, Journal: Antic 2006 - - - Australia - - 0 - - CCHS see paper; … PHOX2B PHOX2B 1 1 Johan den Dunnen
00081512 - PubMed: Antic 2006, Journal: Antic 2006 - - - Germany - - 0 - - CCHS see paper; … PHOX2B PHOX2B 1 1 Johan den Dunnen
00081513 - PubMed: Antic 2006, Journal: Antic 2006 2-generation family, 3 affecteds,mother/2 children - - United States - - 0 - - CCHS see paper; … PHOX2B PHOX2B 1 3 Johan den Dunnen
00081514 - PubMed: Antic 2006, Journal: Antic 2006 - - - United States - - 0 - - CCHS see paper; … PHOX2B PHOX2B 1 1 Johan den Dunnen
00081515 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS isolated CCHS (30), LO-CHS (5) PHOX2B PHOX2B 1 35 Johan den Dunnen
00081516 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS isolated CCHS (37),CCHS+HSCR (5), ? (2) PHOX2B PHOX2B 1 44 Johan den Dunnen
00081517 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS isolated CCHS (39),CCHS+HSCR (18), ? (3) PHOX2B PHOX2B 1 60 Johan den Dunnen
00081518 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS isolated CCHS (2),CCHS+HSCR (3) PHOX2B PHOX2B 1 5 Johan den Dunnen
00081519 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS isolated CCHS (2),CCHS+tumour (1), ? (1) PHOX2B PHOX2B 1 4 Johan den Dunnen
00081520 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS isolated CCHS (1), ? (2) PHOX2B PHOX2B 1 3 Johan den Dunnen
00081521 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS+HSCR (2) PHOX2B PHOX2B 1 2 Johan den Dunnen
00081522 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS+HSCR (2) PHOX2B PHOX2B 1 2 Johan den Dunnen
00081523 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS isolated CCHS (1), tumour (1), ? (4) PHOX2B PHOX2B 1 6 Johan den Dunnen
00081524 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (SS), neuroblastoma PHOX2B PHOX2B 1 3 Johan den Dunnen
00081525 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (LS), no neuroblastoma PHOX2B PHOX2B 1 1 Johan den Dunnen
00081526 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (LS), no neuroblastoma PHOX2B PHOX2B 1 1 Johan den Dunnen
00081527 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR, neuroblastoma (multiple) PHOX2B PHOX2B 1 3 Johan den Dunnen
00081528 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS - PHOX2B PHOX2B 1 1 Johan den Dunnen
00081529 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (TCA), neuroblastoma (multiple) PHOX2B PHOX2B 1 35 Johan den Dunnen
00081530 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, no HSCR (SS) PHOX2B PHOX2B 1 44 Johan den Dunnen
00081531 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (TCA), no neuroblastoma PHOX2B PHOX2B 1 60 Johan den Dunnen
00081532 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR, neuroblastoma PHOX2B PHOX2B 1 5 Johan den Dunnen
00081533 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (LS), no neuroblastoma PHOX2B PHOX2B 1 4 Johan den Dunnen
00081534 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR, neuroblastoma (multiple) PHOX2B PHOX2B 1 3 Johan den Dunnen
00081535 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (TCA), neuroblastoma (ganglioneuroblastoma) PHOX2B PHOX2B 1 2 Johan den Dunnen
00081536 - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - 0 - - CCHS CCHS, HSCR (SS) PHOX2B PHOX2B 1 2 Johan den Dunnen
00081539 - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - 0 - - CCHS - PHOX2B PHOX2B 2 3 Johan den Dunnen
00081540 - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - 0 - - CCHS - PHOX2B PHOX2B 1 1 Johan den Dunnen
00081541 - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - 0 - - CCHS - PHOX2B PHOX2B 2 1 Johan den Dunnen
00081542 - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - 0 - - CCHS - PHOX2B PHOX2B 2 3 Johan den Dunnen
00081543 - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - 0 - - CCHS - PHOX2B PHOX2B 2 1 Johan den Dunnen
00081544 - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - 0 - - CCHS - PHOX2B PHOX2B 1 35 Johan den Dunnen
00131920 41 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - F no Italy - - 0 - - CCHS neuroblastoma Hirschsprung disease PHOX2B PHOX2B 1 1 Tiziana Bachetti
00131937 021 PubMed: Matera 2004, PubMed: Bachetti 2005, Journal: Bachetti 2005 unaffected parents F no Italy - - 0 - - CCHS neuroblastoma Hirschsprung disease PHOX2B PHOX2B 1 1 Tiziana Bachetti
00131948 075 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 inheritance not assessed (father not carrying mutation, mother's DNA not available) F - Germany - - 0 - - CCHS CCHS, neuroblastoma PHOX2B PHOX2B 1 1 Tiziana Bachetti
00131955 085 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 parents's DNA not available for inheritance study M ? Germany - - 0 - - CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00131960 92 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 de novo variant, associated with Hirschsprung disease F ? Italy - - 0 - - CCHS Hirshsprung disease PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132026 215 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - F ? Germany - - 0 - - CCHS no additonal phenotypes PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132027 131 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - ? - ? (unknown) - - 0 - - CCHS Hirschsprung disease PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132028 299 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - M ? - - - 0 - - CCHS no associated phenotypes PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132030 259 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - M - Italy - - 0 - - CCHS CCHS, Hirschsprung disease PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132031 132 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - ? - ? (unknown) - - 0 - - CCHS CCHS, Hirschsprung disease PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132093 Pat01 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS late onset PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132094 Pat02 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS ocular anomalies PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132095 Pat03 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS dysrhythmia, loss of consciousness PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132096 Pat04 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS ocular anomalies, constipation PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132097 Pat05 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS ocular anomalies, decreased heart rate variability PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132098 Pat06 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS ocular anomalies PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132099 Pat07 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132100 Pat08 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132101 Pat09 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132102 Pat10 PubMed: Matera 2004 - - - Italy - - 0 - ventilation 24h CCHS ocular anomalies, growth hormone deficiency, constipation PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132103 Pat11 PubMed: Matera 2004 - - - Germany - - 0 - ventilation during sleep CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132104 Pat12 PubMed: Matera 2004 - - - Germany - - 0 - ventilation during sleep CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132105 Pat13 PubMed: Matera 2004 - - - Germany - - 0 - ventilation 24h CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132106 Pat14 PubMed: Matera 2004 - - - Germany - - 0 - ventilation 24h CCHS Hirschsprung’s disease PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132107 Pat15 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS late onset PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132108 Pat16 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS loss of consciousness, abdominal pain PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132109 Pat17 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS late onset PHOX2B - 0 1 Tiziana Bachetti
00132110 Pat18 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS - PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132111 Pat19 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS gastroesophageal reflux PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132112 Pat20 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS ocular anomalies, loss of consciousness, altered sweating, dysphagia PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132113 Pat22 PubMed: Matera 2004 - - - Germany - - 0 - ventilation during sleep CCHS Hirschsprung’s disease, ocular anomalies, loss of consciousness, dysrhythmia PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132114 Pat23 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS altered perception of pain, constipation PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132115 Pat24 PubMed: Matera 2004 - M ? Italy - 00y04m 0 - ventilation 24h CCHS Hirschsprung’s disease, ocular anomalies, total colon aganglionosis (TCA) PHOX2B PHOX2B 1 1 Tiziana Bachetti
00132116 Pat27 PubMed: Matera 2004 variant inherited from mother, affected brother/sister carry same variant M - Netherlands - - 0 - ventilation during sleep CCHS tetralogy of Fallot PHOX2B PHOX2B 1 4 Tiziana Bachetti
00132117 Pat28 PubMed: Matera 2004 - - - Italy - - 0 - ventilation during sleep CCHS ocular anomalies PHOX2B PHOX2B 1 1 Tiziana Bachetti
00155709 15516980-N532 PubMed: Van Limpt 2004 - M - Netherlands - - 0 - - CCHS see paper; ... PHOX2B PHOX2B 1 1 Johan den Dunnen
00305400 137849 - - F ? ? (unknown) - - 0 - - CCHS Central hypoventilation syndrome, cryptogenic epilepsy, combined developmental delay, chronic epilepsy hypoxaemia (drumstick finger); behavioural abnormalities, resuscitation, tracheotomized and nocturnal home respiration TMEM43 TMEM43 1 1 Andreas Laner
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