Global Variome shared LOVD

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Phenotype #0000016068 Individual ID 00017742 Associated disease CISS Phenotype details severe; feeding problems (HP:0011968); scoliosis (HP:0002650); camptodactyly (HP:0012385); large joints (HP:0005781); global developmental dealy (HP:0001263); episodic fever (HP:0001954); foot abnormality (HP:0001760); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6y (6 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 18:57:37 +02:00 (CEST) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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