Global Variome shared LOVD

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Phenotype #0000016075 Individual ID 00017749 Associated disease CISS Phenotype details intermediate; flat nasal bridge (HP:0005280); scoliosis (HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); global developmental dealy (HP:0001263); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 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 2013-09-19 13:01:59 +02:00 (CEST) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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