Global Variome shared LOVD

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Phenotype #0000227215 Individual ID 00299893 Associated disease XHED Phenotype details child not able to sweat (HP:0000966); height 95 cm, weight 13kg; resting heart rate 104/min; sweat volume 0.0 ul, 0 sweat pores/cm2; basal skin conductance 9.0 uS, increase after stimulation 0.0 uS Diagnosis/Initial hypohidrotic ectodermal dysplasia Inheritance Familial, X-linked dominant Diagnosis/Definite XHED Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-21 19:30:17 +02:00 (CEST) Date last edited N/A

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