Phenotype #0000060346

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00080769
Associated disease	ACRDYS2
Phenotype details	borderline PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	39y&37y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Francesca Marta Elli
Database submission license	No license selected
Created by	Francesca Marta Elli
Date created	2016-09-12 11:01:58 +02:00 (CEST)
Date last edited	N/A

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