Phenotype #0000352050

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466687
Associated disease	stature, short
Phenotype details	see paper; ..., small for gestational age, frequent otitis media acuta;, genua valga, advanced bone age (+3.4y); height SDS-2.76; birth weight SDS-2.56, length SDS-4.14
Diagnosis/Initial	short stature
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	11y (11 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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