Phenotype #0000016072

Individual ID 00017746
Associated disease CISS
Phenotype details 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)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Insa Buers
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-09-18 19:43:47 +02:00 (CEST)
Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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