Phenotype #0000016060

Individual ID	00017734
Associated disease	CISS
Phenotype details	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);
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Insa Buers
Database submission license
Created by	Johan den Dunnen
Date created	2013-09-17 16:32:14 +02:00 (CEST)
Date last edited	2020-04-07 11:38:19 +02:00 (CEST)

Global Variome shared LOVD