Phenotype #0000352064

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466701
Associated disease	stature, short
Phenotype details	see paper; ..., small for gestational age, growth hormone deficiency, lower-limb shortening, minor stigmata; height SDS-3.18; birth weight SDS-2.56, length SDS-3.13
Diagnosis/Initial	short stature
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-23 14:50:33 +02:00 (CEST)
Date last edited	N/A

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