Global Variome shared LOVD

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

Phenotype #0000227229 Individual ID 00299907 Associated disease XHED Phenotype details adult not able to sweat (HP:0000966); height 176 cm, weight 85kg; resting heart rate 80/min; sweat volume 0.0 ul, 56 sweat pores/cm2; basal skin conductance 14.0 uS, increase after stimulation 0.2 uS; 24 missing teeth Diagnosis/Initial hypohidrotic ectodermal dysplasia Inheritance Familial, X-linked dominant Diagnosis/Definite XHED Age/Examination 44y (44 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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