Disease #00670 (CDLS3 (Cornelia de Lange syndrome, type 3 (CDLS-3)), OMIM:610759)

Official abbreviation	CDLS3
Name	Cornelia de Lange syndrome, type 3 (CDLS-3)
OMIM ID	610759
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SMC3
Associated tissues	-
Disease features	cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalities; cardiac defects; limb reductions; hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2023-08-31 23:38:53 +02:00 (CEST)

Global Variome shared LOVD