Disease #00432 (CISS (sweating syndrome, cold-induced (CISS, Crisponi Syndrome)), OMIM:272430)

Official abbreviation CISS
Name sweating syndrome, cold-induced (CISS, Crisponi Syndrome)
OMIM ID 272430
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 64
Phenotype entries for this disease 64
Associated with 1 gene CRLF1
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-22 20:58:35 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

64 entries on 1 page. Showing entries 1 - 64.
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00017722 - PubMed: Dagoneau 2007, PubMed: Crisponi 2007 - F ? Italy Sardinia - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017723 - PubMed: Crisponi 2007 - - ? - - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017724 - PubMed: Crisponi 2007 - - ? - - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017725 - PubMed: Crisponi 2007 - - ? - - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017726 - PubMed: Crisponi 2007 - - ? Turkey - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017727 - PubMed: Crisponi 2007 - - ? Turkey - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017728 - PubMed: Crisponi 2007 - - ? Turkey - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017729 - PubMed: Crisponi 2007 - - ? Turkey - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017730 - PubMed: Herholz 2011 - - ? Libya - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017731 - PubMed: Herholz 2011 - - ? Libya - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017732 - PubMed: Herholz 2011 - - ? Libya - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017733 - PubMed: Herholz 2011 - M ? Spain - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017734 - PubMed: Herholz 2011 - F ? Italy - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); no large joints (-HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 4 1 Insa Buers
00017735 - PubMed: Knappskog 2003, PubMed: Hahn 2010 2-generation family, 2 brothers, unaffected heterozygous carrier parents M ? Norway - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); dehydration (HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017736 - PubMed: Hahn 2010 - - ? - - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017737 - PubMed: Hahn 2010 - M ? Norway - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); large joints (HP:0005781); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017738 - - - - ? - - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017739 - PubMed: Hahn 2006, PubMed: Hahn 2010 - F ? Canada - - - - - CISS scoliosis (HP:0002650); camptodactyly (HP:0012385); large joints (HP:0005781); no global developmental dealy (-HP:0001263); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017740 - PubMed: Knappskog 2003, PubMed: Hahn 2010, Sohar 1978 2-generation family, 2 sisters, unaffected heterozygous carrier parents F ? Israel - - - - - CISS flat nasal bridge (HP:0005280); scoliosis (HP:0002650); large joints (HP:0005781); no global developmental dealy (-HP:0001263); foot abnormality (HP:0001760); high palate (HP:0000218); no poor swallowing (-HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 4 1 Insa Buers
00017741 - PubMed: Knappskog 2003, PubMed: Hahn 2010, Sohar 1978 2-generation family, 2 sisters, unaffected heterozygous carrier parents F ? Israel - - - - - CISS flat nasal bridge (HP:0005280); scoliosis (HP:0002650); large joints (HP:0005781); no global developmental dealy (-HP:0001263); foot abnormality (HP:0001760); high palate (HP:0000218); no poor swallowing (-HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 4 1 Insa Buers
00017742 - PubMed: Dagoneau 2007 - M ? France gypsy - - - - CISS severe; feeding problems (HP:0011968); scoliosis (HP:0002650); camptodactyly (HP:0012385); large joints (HP:0005781); global developmental dealy (HP:0001263); episodic fever (HP:0001954); foot abnormality (HP:0001760); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017743 - PubMed: Dagoneau 2007 - M ? France gypsy - - - - CISS severe; feeding problems (HP:0011968); scoliosis (HP:0002650); camptodactyly (HP:0012385); large joints (HP:0005781); episodic fever (HP:0001954); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017744 - PubMed: Okur 2008 - M ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017745 - PubMed: Dagoneau 2007 - F ? United States Yemenite - - - - CISS feeding problems (HP:0011968); camptodactyly (HP:0012385); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017746 - PubMed: Yamazakhi 2010 - F ? Japan - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017747 - PubMed: Hahn 2010 - F ? United States - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); large joints (HP:0005781); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017748 - PubMed: Cosar 2011 - M ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); episodic fever (HP:0001954); high palate (HP:0000218); CRLF1 CRLF1 2 1 Insa Buers
00017749 - PubMed: Tüysüz 2012 - M ? Turkey - - - - - CISS intermediate; flat nasal bridge (HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); global developmental dealy (HP:0001263); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017750 - PubMed: Tüysüz 2012 - M ? Turkey - - - - - CISS intermediate; flat nasal bridge (HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no high palate (-HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017751 - Benoit 2012 ASHG Abs3181 - ? ? Turkey - - - - - CISS - CRLF1 CRLF1 2 1 Insa Buers
00017752 - PubMed: Knappskog 2003, PubMed: Hahn 2010 2-generation family, 2 brothers, unaffected heterozygous carrier parents M ? Norway - - - - - CISS mild; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); no episodic fever (-HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017753 - PubMed: Di Leo 2010 - M ? Italy - - - - - CISS scoliosis (HP:0002650); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017754 - PubMed: Piras 2014 - M ? Pakistan - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); episodic fever (HP:0001954); foot abnormality (HP:0001760); no high palate (-HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017755 - PubMed: Piras 2014 - M ? Australia - - - - - CISS severe; feeding problems (HP:0011968); no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); no high palate (-HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017756 - PubMed: Piras 2014 - M ? Spain - - - - - CISS severe; feeding problems (HP:0011968); no flat nasal bridge (-HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017757 - PubMed: Hakan 2012 - F ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); full cheeks (HP:0000293); episodic fever (HP:0001954); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017758 - PubMed: Piras 2014 - M ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); dehydration (HP:0001944); global developmental dealy (HP:0001263); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017759 - PubMed: Piras 2014 - M ? Spain gypsy - - - - CISS intermediate; hyperkyphosis; no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); no poor swallowing (-HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 4 1 Insa Buers
00017760 - PubMed: Piras 2014 - F ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); no full cheeks (-HP:0000293); no large joints (-HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); global developmental dealy (HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017761 - PubMed: Uzunalic 2013 - F ? Turkey - - - - - CISS intermediate; flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); global developmental dealy (HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017762 - PubMed: Piras 2014 - F ? Saudi Arabia - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017763 - PubMed: Piras 2014 - F ? Italy Sardinia - - - - CISS intermediate; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no episodic fever (-HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017764 - PubMed: Piras 2014 - F ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); global developmental dealy (HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); no poor swallowing (-HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017765 - PubMed: Piras 2014 - M ? Israel - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); foot abnormality (HP:0001760); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017766 - PubMed: Piras 2014 - M ? Italy Sardinia - - - - CISS intermediate; feeding problems (HP:0011968); no flat nasal bridge (-HP:0005280); no camptodactyly (-HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no episodic fever (-HP:0001954); no foot abnormality (-HP:0001760); no high palate (-HP:0000218); no poor swallowing (-HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017767 - PubMed: Piras 2014 - F ? Spain - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); no high palate (-HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 1 1 Insa Buers
00017768 - PubMed: Piras 2014 - M ? United Kingdom (Great Britain);Pakistan - - - - - CISS intermediate; feeding problems (HP:0011968); no flat nasal bridge (-HP:0005280); no scoliosis (-HP:0002650); no camptodactyly (-HP:0012385); no full cheeks (-HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no episodic fever (-HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) CRLF1 CRLF1 1 1 Insa Buers
00017769 - PubMed: Piras 2014 - M ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017770 - PubMed: Piras 2014 - M ? Italy Sardinia - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); no high palate (-HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017771 - PubMed: Gonzalez Fernandez 2013 - M ? Spain - - - - - CISS feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) CRLF1 CRLF1 2 1 Insa Buers
00017772 - PubMed: Piras 2014 - F ? Italy Sardinia - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017773 - PubMed: Piras 2014 - F ? Italy Sardinia - - - - CISS severe disease; patient deceased; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); no flat nasal bridge (-HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); no cyanosis (-HP:0000961); no dehydration (-HP:0001944); episodic fever (HP:0001954); foot abnormality (HP:0001760); no high palate (-HP:0000218); poor swallowing (HP:0002015) CRLF1 CRLF1 2 1 Insa Buers
00017774 - PubMed: Piras 2014 - F ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); dehydration (HP:0001944); global developmental dealy (HP:0001263); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017775 - PubMed: Piras 2014 - M ? Turkey - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017776 - PubMed: Piras 2014 - F ? Spain gypsy - - - - CISS severe; feeding problems (HP:0011968); no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); no high palate (-HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017777 - PubMed: Piras 2014 - F ? Spain gypsy - - - - CISS severe; feeding problems (HP:0011968); no flat nasal bridge (-HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); no dehydration (-HP:0001944); no global developmental dealy (-HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); no high palate (-HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017778 - PubMed: Thomas 2008 - M ? India - - - - - CISS severe; feeding problems (HP:0011968); tube nasogastric tube feeding (HP:0040288); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); global developmental dealy (HP:0001263); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); CRLF1 CRLF1 2 1 Insa Buers
00017779 - PubMed: Hahn and Boman 2011 - ? ? - - - - - - CISS - CRLF1 CRLF1 1 1 Insa Buers
00078698 27392078-FamPatCS_144 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish 00y21m - - - CISS hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no retinitis pigmentosa (-HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), no full cheeks (-HP:0000293), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371),; feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) KLHL7 KLHL7 1 1 Jamie Zeegers
00078699 27392078-FamPatCS_258 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish >06y - - - CISS hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), retinitis pigmentosa (HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), foot anomalies (HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), cold-induced sweating (HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371), no psychomotor retardation (-HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) KLHL7 KLHL7 1 1 Jamie Zeegers
00078700 27392078-PanPatCS_259 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish 02y - - - CISS contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), cyanosis (HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), no foot anomalies (-HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371), no psychomotor retardation (-HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) KLHL7 KLHL7 1 1 Jamie Zeegers
00078701 27392078-FamGPatCS_260 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents M yes Turkey Turkish >04y - - - CISS hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), retinitis pigmentosa (HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); episodic fever (HP:0001954); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) KLHL7 KLHL7 1 1 Jamie Zeegers
00078702 27392078-FamPatCS_169 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents M yes Turkey Turkish 00y07m - - - CISS no hyperthermia (-HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), foot anomalies (HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), no joint contractures (-HP:0001371), psychomotor retardation (HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); no episodic fever (-HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) KLHL7 KLHL7 1 1 Jamie Zeegers
00080839 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CISS cold induced sweating (HP:0025278) CRLF1 CRLF1 1 1 Daniel Trujillano
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