Global Variome shared LOVD

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

Phenotype #0000128901 Individual ID 00163781 Associated disease KAL Phenotype details Absent puberty Cryptorchidism Micropenis Right inguinal hernia Hypospadias Mild facial asymmetry Right ear hypoplasia Anosmic (< 5th %ile) At age 13, he had absent puberty (testes 1 ml) and hormonal profiling compatible with hypogonadotropic hypogonadism (T<1.0 nmol/l, LH&FSH < 0.5 U/l) 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 03:57:46 +02:00 (CEST) Date last edited 2018-04-12 06:15:34 +02:00 (CEST)

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