Phenotype #0000090226

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00114744
Associated disease	CPDX1
Phenotype details	Flat nose, brachytelephalangic chondrodysplasia, left school at 9 yo due to poor school perfomance. Maternal grandfather is positive for the same mutation but he is asymptomatic); CPDX1
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Claudia Matos-Miranda
Database submission license	No license selected
Created by	Claudia Matos-Miranda
Date created	2010-02-12 12:10:13 +01:00 (CET)
Date last edited	2017-08-07 11:59:57 +02:00 (CEST)

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