Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

doi:10.1002/ajmg.c.32089

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Article

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2024

Sarli Camilla, van der Laan Liselot, Reilly Jack, Trajkova Slavica, Carli Diana, Brusco Alfredo, Levy Michael A, Relator Raissa, Kerkhof Jennifer, McConkey Haley, Tedder Matthew L, Skinner Cindy, Alders Mariëlle, Henneman Peter, Hennekam Raoul C M, Ciaccio Claudia, D'Arrigo Stefano, Vitobello Antonio, Faivre Laurence, Weber Sacha, Vincent-Devulder Aline, Perrin Laurence, Bourgois Alexia, Yamamoto Toshiyuki, Metcalfe Kay, Zollino Marcella, Kini Usha, Oliveira Daniela, Sousa Sergio B, Williams Denise, Cappuccio Gerarda, Sadikovic Bekim, Brunetti-Pierri Nicola

Abstract excerpt

Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF)...

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Identifiers

PMID: 38884529
DOI: 10.1002/ajmg.c.32089

Genes

ADNP
SMARCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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