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Metadata
ID	DOID:0080505
Name	Cornelia de Lange syndrome 1
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
Xrefs	MIM:122470
Parent Relationships	is_a Cornelia de Lange syndrome is_a autosomal dominant disease