Phenotype #0000059714

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00080149
Associated disease	ACRDYS1
Phenotype details	short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	31y
Age/Onset	-
Phenotype/Onset	-
Growth	-
Protein	-
Owner name	Francesca Marta Elli
Database submission license	No license selected
Created by	Francesca Marta Elli
Date created	2016-09-02 09:52:26 +02:00 (CEST)
Date last edited	N/A

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