Preferred Label : Cornelia de lange syndrome 5;
Symbol : CDLS5;
CISMeF acronym : CDLS5;
Type : Phenotype, molecular basis known;
Description : Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized
by malformations affecting multiple systems. Affected individuals have dysmorphic
facial features, cleft palate, distal limb defects, growth retardation, and developmental
delay. About 60% of patients have mutations in the NIPBL gene (608667) on chromosome
5p13 (CDLS1; 122470), and about 4 to 6% of patients have mutations in the X-linked
SMC1A gene (300040) (CDLS2; 300590) (summary by Musio et al., 2006, Hoppman-Chaney
et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity
of Cornelia de Lange syndrome, see 122470.;
Inheritance : X-linked dominant;
Molecular basis : Caused by mutation in the histone deacetylase 8 gene (HDAC8, 300269.0002);
Prefixed ID : #300882;
Origin ID : 300882;
UMLS CUI : C3550903;
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
Validated automatic mappings to NTBT