A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. [ NCI ]

Synonyms:

Cornelia De Lange Syndrome

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Term information

Subsets

NCIT_C99147, NCIT_C90259, NCIT_C165258

Contributing Source
  • Cellosaurus
  • NICHD
Legacy Concept Name
  • Cornelia_De_Lange_Syndrome
Preferred Name
  • Cornelia De Lange Syndrome
Semantic Type
  • Disease or Syndrome
UMLS CUI
  • C0270972
code
  • C75016