Global Variome shared LOVD

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Phenotype #0000245382 Individual ID 00326919 Associated disease ? Diagnosis/Initial hypogonadotropic hypogonadism Diagnosis/Definite HLD8 Phenotype details see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; normal pubertal growth spurt, stalled breast development and pubic hair growth, primary amenorrhoea; protruding ears, high arched palate, micrognathia, kidney cysts Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 20y Age/Onset - Phenotype/Onset normosmic idiopathic hypogonadotropic hypogonadism Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-01-16 14:15:47 +01:00 (CET) Date last edited N/A

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