Global Variome shared LOVD

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Phenotype #0000128905 Individual ID 00163783 Associated disease KAL Phenotype details Absent puberty despite a normal stature (170 cm) Serum measurement of reproductive hormones showed hypogonadotropic hypogonadism (T < 1 nmol/L, LH < 1 IU/L, FSH < 1 IU/L) Obesity Anosmic Born without cryptorchidism nor micropenis MRI not performed Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Ashley Marsh Database submission license No license selected Created by Ashley Marsh Date created 2018-04-12 04:45:36 +02:00 (CEST) Date last edited 2018-04-12 06:11:39 +02:00 (CEST)

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