Phenotype #0000237129

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00311880
Associated disease	DRS
Phenotype details	hypertelorism, short nose, short stature, mesomelic shortening limbs
Diagnosis/Initial	Robinow syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	DRS1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-29 21:03:18 +02:00 (CEST)
Date last edited	N/A

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