Cornelia de Lange syndrome 1

Term ID

DOID:0080505

Synonyms

Definition

A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/20583156

References

• MIM:122470

Ontology

Human Disease   ( DOID:0080505 )