Global Variome shared LOVD

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

Phenotype #0000016084 Individual ID 00017758 Associated disease CISS Phenotype details 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); Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 4y (4 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 2014-03-04 16:41:11 +01:00 (CET) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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