Phenotype #0000227244

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00299922
Associated disease	XHED
Phenotype details	height 164 cm, weight 54kg; resting heart rate 80/min; sweat volume 3.0 ul, 300 sweat pores/cm2; basal skin conductance 34.0 uS, increase after stimulation 7.5 uS; 6 missing teeth
Diagnosis/Initial	hypohidrotic ectodermal dysplasia
Inheritance	Familial, X-linked dominant
Diagnosis/Definite	XHED
Age/Examination	30y (30 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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