Phenotype #0000227227

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00299905
Associated disease	XHED
Phenotype details	adult not able to sweat (HP:0000966); height 176 cm, weight 74kg; resting heart rate 72/min; sweat volume 0.0 ul, 56 sweat pores/cm2; basal skin conductance 28.0 uS, increase after stimulation 6.0 uS; 21 missing teeth
Diagnosis/Initial	hypohidrotic ectodermal dysplasia
Inheritance	Familial, X-linked dominant
Diagnosis/Definite	XHED
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
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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