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 International |
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) |