Global Variome shared LOVD

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

Phenotype #0000128903 Individual ID 00163782 Associated disease KAL Phenotype details Absent puberty Micropenis without cryptorchidism Mental retardation Obesity Glucose intolerance Moderate hypotonia Cavum septum pellucidum, reduced pituitary volume, decreased Rathke’s cyst, olfactory bulb asymmetry Gonadotropines levels were low for minipuberty (LH 0.5 U/l, FSH 0.7 U/l) without dysfunction of other pituitary axes Diagnosis/Initial - Inheritance Unknown 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 04:32:29 +02:00 (CEST) Date last edited 2018-04-12 06:07:05 +02:00 (CEST)

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