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ARID1B and developmental delay are reported together in 2 articles.

Gene

ARID1B

3articles

3mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

480articles

480mentions

12co-reported genes shown

Most co-reported genes (articles)

Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.

2 records shown · first 60

PMID 40851727 | PMCID PMC12369447 | DOI 10.7759/cureus.88507 · Cureus · 2025 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ARID1B	“A novel pathogenic heterozygous variant c.1314del p.(Glu439Serfs*63) in the ARID1B gene was identified through whole-exome sequencing (WES).”	0.98	hgnc_dict_v1
phenotype	developmental delay	“We present a case involving a Saudi girl who had global developmental delay, hypertrichosis, and subtle dysmorphic traits since birth but remained undiagnosed until the age of nine.”	0.98	phenotype_alias_lexicon_v2
phenotype	intellectual disability	“Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by underdeveloped toenails or fingernails, developmental delays, and intellectual disability, among other characteristics.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report. We present a case involving a Saudi girl who had global developmental delay, hypertrichosis, and subtle dysmorphic traits since birth but remained undiagnosed until the age of nine.”	0.95	saudi_context_rules_v1

PMID 38735569 | DOI 10.1016/j.ejmg.2024.104948 · European journal of medical genetics · 2024 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ARID1B	“Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS).”	0.98	phenotype_alias_lexicon_v2
gene	ARID1A	“Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4.”	0.98	hgnc_dict_v1
gene	SMARCA4	“Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4.”	0.98	hgnc_dict_v1