|  
 
               Individual ID      |  
 
               ID_report      |  
 
               Reference      | 
 
               Remarks      |  
 
               Gender      |  
 
               Consanguinity      |  
 
               Country      |  
 
               Population      |  
 
               Age at death      |  
 
               VIP      |  
 
               Data_av      |  
 
               Treatment      |  
 
               Disease      |  
 
               Phenotype details      |  Genes screened
 
 |  Variants in genes
 
 |  
 
               Variants      |  
 
               Panel size      |  
 
               Owner      | 
        
          | 00081481 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected, unaffected non-carrier parents | - | - | France | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | CCHS | autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); constipation; no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081484 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected | - | - | France | - | - | - | - | - | CCHS | autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081485 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected | - | - | France | - | - | - | - | - | CCHS | autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081486 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected | - | - | France | - | - | - | - | - | CCHS | autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081487 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected | - | - | France | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | CCHS | autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081497 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected, unaffected non-carrier parents | - | - | France | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | CCHS | Hirschsprung disease (HP:0002251); no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081502 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected, unaffected non-carrier parents | - | - | France | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | CCHS | autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, SS); no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081505 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected | - | - | France | - | - | - | - | - | CCHS | Hirschsprung disease (HP:0002251, LS); no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081506 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected | - | - | France | - | - | - | - | - | CCHS | autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour | PHOX2B | - | - | 1 | Johan den Dunnen | 
        
          | 00081507 | - | PubMed: Amiel 2003, Journal: Amiel 2003 | 2-generation family, 1 affected, unaffected non-carrier parents | - | - | France | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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) | - | - | - | - | - | CCHS | see paper; … | PHOX2B | PHOX2B | 1 | 3 | Johan den Dunnen | 
        
          | 00081511 | - | PubMed: Antic 2006, Journal: Antic 2006 | - | - | - | Australia | - | - | - | - | - | CCHS | see paper; … | PHOX2B | PHOX2B | 1 | 1 | Johan den Dunnen | 
        
          | 00081512 | - | PubMed: Antic 2006, Journal: Antic 2006 | - | - | - | Germany | - | - | - | - | - | 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 | - | - | - | - | - | CCHS | see paper; … | PHOX2B | PHOX2B | 1 | 3 | Johan den Dunnen | 
        
          | 00081514 | - | PubMed: Antic 2006, Journal: Antic 2006 | - | - | - | United States | - | - | - | - | - | CCHS | see paper; … | PHOX2B | PHOX2B | 1 | 1 | Johan den Dunnen | 
        
          | 00081515 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | 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 | - | - | - | - | 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 | - | - | - | - | 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 | - | - | - | - | 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 | - | - | - | - | 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 | - | - | - | - | CCHS | isolated CCHS (1), ? (2) | PHOX2B | PHOX2B | 1 | 3 | Johan den Dunnen | 
        
          | 00081521 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | CCHS | CCHS+HSCR (2) | PHOX2B | PHOX2B | 1 | 2 | Johan den Dunnen | 
        
          | 00081522 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | CCHS | CCHS+HSCR (2) | PHOX2B | PHOX2B | 1 | 2 | Johan den Dunnen | 
        
          | 00081523 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | 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 | - | - | - | - | CCHS | CCHS, HSCR (SS), neuroblastoma | PHOX2B | PHOX2B | 1 | 3 | Johan den Dunnen | 
        
          | 00081525 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | 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 | - | - | - | - | 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 | - | - | - | - | CCHS | CCHS, HSCR, neuroblastoma (multiple) | PHOX2B | PHOX2B | 1 | 3 | Johan den Dunnen | 
        
          | 00081528 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Johan den Dunnen | 
        
          | 00081529 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | 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 | - | - | - | - | CCHS | CCHS, no HSCR (SS) | PHOX2B | PHOX2B | 1 | 44 | Johan den Dunnen | 
        
          | 00081531 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | 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 | - | - | - | - | CCHS | CCHS, HSCR, neuroblastoma | PHOX2B | PHOX2B | 1 | 5 | Johan den Dunnen | 
        
          | 00081533 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | 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 | - | - | - | - | CCHS | CCHS, HSCR, neuroblastoma (multiple) | PHOX2B | PHOX2B | 1 | 3 | Johan den Dunnen | 
        
          | 00081535 | - | PubMed: Trochet 2005, Journal: Trochet 2005 | analysis 188 CCHS cases | - | - | - | European | - | - | - | - | 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 | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | CCHS | - | PHOX2B | PHOX2B | 1 | 35 | Johan den Dunnen | 
        
          | 00131920 | 41 | PubMed: Di Lascio 2018, Journal: Di Lascio 2018 | - | F | no | Italy | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | 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 | - | - | - | - | - | CCHS | Hirshsprung disease | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132026 | 215 | PubMed: Di Lascio 2018, Journal: Di Lascio 2018 | - | F | ? | Germany | - | - | - | - | - | CCHS | no additonal phenotypes | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132027 | 131 | PubMed: Di Lascio 2018, Journal: Di Lascio 2018 | - | ? | - | - | - | - | - | - | - | CCHS | Hirschsprung disease | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132028 | 299 | PubMed: Di Lascio 2018, Journal: Di Lascio 2018 | - | M | ? | - | - | - | - | - | - | CCHS | no associated phenotypes | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132030 | 259 | PubMed: Di Lascio 2018, Journal: Di Lascio 2018 | - | M | - | Italy | - | - | - | - | - | CCHS | CCHS, Hirschsprung disease | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132031 | 132 | PubMed: Di Lascio 2018, Journal: Di Lascio 2018 | - | ? | - | - | - | - | - | - | - | CCHS | CCHS, Hirschsprung disease | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132093 | Pat01 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | late onset | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132094 | Pat02 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | ocular anomalies | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132095 | Pat03 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | dysrhythmia, loss of consciousness | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132096 | Pat04 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | ocular anomalies, constipation | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132097 | Pat05 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | ocular anomalies, decreased heart rate variability | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132098 | Pat06 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | ocular anomalies | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132099 | Pat07 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132100 | Pat08 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132101 | Pat09 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132102 | Pat10 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation 24h | CCHS | ocular anomalies, growth hormone deficiency, constipation | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132103 | Pat11 | PubMed: Matera 2004 | - | - | - | Germany | - | - | - | - | ventilation during sleep | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132104 | Pat12 | PubMed: Matera 2004 | - | - | - | Germany | - | - | - | - | ventilation during sleep | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132105 | Pat13 | PubMed: Matera 2004 | - | - | - | Germany | - | - | - | - | ventilation 24h | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132106 | Pat14 | PubMed: Matera 2004 | - | - | - | Germany | - | - | - | - | ventilation 24h | CCHS | Hirschsprung’s disease | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132107 | Pat15 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | late onset | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132108 | Pat16 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | loss of consciousness, abdominal pain | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132109 | Pat17 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | late onset | PHOX2B | - | - | 1 | Tiziana Bachetti | 
        
          | 00132110 | Pat18 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | - | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132111 | Pat19 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | gastroesophageal reflux | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132112 | Pat20 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | ocular anomalies, loss of consciousness, altered sweating, dysphagia | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132113 | Pat22 | PubMed: Matera 2004 | - | - | - | Germany | - | - | - | - | 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 | - | - | - | - | ventilation during sleep | CCHS | altered perception of pain, constipation | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00132115 | Pat24 | PubMed: Matera 2004 | - | M | ? | Italy | - | 00y04m | - | - | 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 | - | - | - | - | ventilation during sleep | CCHS | tetralogy of Fallot | PHOX2B | PHOX2B | 1 | 4 | Tiziana Bachetti | 
        
          | 00132117 | Pat28 | PubMed: Matera 2004 | - | - | - | Italy | - | - | - | - | ventilation during sleep | CCHS | ocular anomalies | PHOX2B | PHOX2B | 1 | 1 | Tiziana Bachetti | 
        
          | 00155709 | 15516980-N532 | PubMed: Van Limpt 2004 | - | M | - | Netherlands | - | - | - | - | - | CCHS | see paper; ... | PHOX2B | PHOX2B | 1 | 1 | Johan den Dunnen | 
        
          | 00305400 | 137849 | - | - | F | ? | - | - | - | - | - | - | 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 | 
        
          | 00416615 | - | - | - | F | no | France | African | 00y01m | - | - | - | CCHS | Severe respiratory distress | PHOX2B | PHOX2B | 1 | 1 | Minh Tuan Huynh |