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WNT1 and developmental delay are reported together in 1 article.
Gene
WNT1
- HGNC
- HGNC:12774
4articles
4mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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 60Heterozygous WNT1 variant causing a variable bone phenotype.
PMID 30246918 | PMCID PMC6289778 | DOI 10.1002/ajmg.a.40347 · American journal of medical genetics. Part A · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WNT1 | “Heterozygous WNT1 variant causing a variable bone phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Though smaller than the typical (1.5 Mb) 22q11.2 duplication, the duplication in the proband may be responsible for additional nonosseous aspects of his phenotype (hypotonia, developmental delay, small genitalia, strabismus, and depression in preadolescence).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | osteogenesis imperfecta | “Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Trp351Arg | “1051 > C; p.Trp351Arg) was identified in the proband and segregated with a bone phenotype in three additional family members, consistent with autosomal dominant inheritance.” | 0.95 | hgvs_regex_v1 |