Global Variome shared LOVD

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Phenotype #0000016067 Individual ID 00017741 Associated disease CISS Phenotype details flat nasal bridge (HP:0005280); scoliosis (HP:0002650); large joints (HP:0005781); no global developmental dealy (-HP:0001263); foot abnormality (HP:0001760); high palate (HP:0000218); no poor swallowing (-HP:0002015); cold induced sweating (HP:0025278) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 20y (20 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 18:50:22 +02:00 (CEST) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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