Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000016074 Individual ID 00017748 Associated disease CISS Phenotype details 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); Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6m 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 2013-09-19 12:50:48 +02:00 (CEST) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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