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ARID1A and developmental delay are reported together in 1 article.
Gene
ARID1A
- HGNC
- HGNC:11110
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
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.
Publications
1 records shown · first 60Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.
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 | 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 |
| 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 | 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 |
| 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 |