Disease #06212 (COFS3 (Cerebrooculofacioskeletal syndrome 3), OMIM:616570)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

	Curator: Joanna Walczak-Sztulpa

Official abbreviation	COFS3
Name	Cerebrooculofacioskeletal syndrome 3
OMIM ID	616570
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	ERCC5
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.