Disease #04602 (CLCRP1 (Cole-Carpenter syndrome, type 1 (CLCRP1)), OMIM:112240)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	CLCRP1
Name	Cole-Carpenter syndrome, type 1 (CLCRP1)
OMIM ID	112240
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	P4HB
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-09-23 10:25:23 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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