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Article

Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome.

American journal of medical genetics. Part A - 1 Jul 2025

Ng Rowena, Grados Marco, O'Connor Julia, Kline Antonie D

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare disorder associated with developmental delay, intellectual disability, autism features, and behavior regulation difficulties. CdLS has been considered to be a spectrum disorder that ranges from classical to atypical involvement. The severity of CdLS based on physical features has been associated with greater neurological abnormalities and hearing impairment; however,...

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Identifiers

PMID: 40084492
DOI: 10.1002/ajmg.a.64040

Genes

NIPBL
SMC1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome.PMID 40084492Read ↗

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Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.Semantic proximity Read ↗

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.Semantic proximity Read ↗

The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals.Semantic proximity Read ↗

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.Semantic proximity Read ↗

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.Semantic proximity Read ↗

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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.Semantic proximity Read ↗

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.Semantic proximity Read ↗

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.Semantic proximity Read ↗

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