Phenotype #0000128903

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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)