Global Variome shared LOVD

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Phenotype #0000292443 Individual ID 00399326 Associated disease HED Phenotype details see paper; ..., sparse scalp hair, decreased sweating since birth, no nail anomalies, no palmoplantar hyperkeratosis; hypodontia, saddle nose, periorbital wrinkling Diagnosis/Initial hypohidrotic ectodermal dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite ECTD11B Age/Examination 00y08m (8 months) 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 2022-01-19 14:49:18 +01:00 (CET) Date last edited N/A

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