Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000128906 Individual ID 00163784 Associated disease KAL Phenotype details Absent puberty Anosmic (UPSIT: 13/40, <5th %ile) Primary amenorrhea lack of pubertal development and hormonal profiling revealed undetectable gonadotropins (LH/FSH < 1.0 U/L) in the setting of low estradiol levels (< 60 pmol/L) Bilateral sensorineural hearing loss Osteopenia (hip) Absence of olfactory bulb 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 05:00:27 +02:00 (CEST) Date last edited 2018-04-12 06:14:25 +02:00 (CEST)

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