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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Skeletal dysplasia
49articles
49mentions
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 60Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.
PMID 39889153 | PMCID PMC11789910 | DOI 10.1097/MD.0000000000041342 · Medicine · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | skeletal dysplasia | “It is characterized by skeletal dysplasia and dysautonomia and carries a high mortality rate in infancy, which decreases significantly after the age of 2.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.2257dup | “Whole exome sequencing identified a novel homozygous pathogenic variant in the LIFR gene (c.2257dup p.(Arg753Lysfs*20)), confirming the diagnosis of autosomal recessive SWS type 1.” | 0.95 | hgvs_regex_v1 |
| gene | LIFR | “Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.” | 0.98 | hgnc_dict_v1 |
| population | Population | “PATIENT CONCERNS: We report a male, full-term infant born to consanguineous Yemeni parents with no family history of genetic disorders.” | 0.80 | saudi_context_rules_v1 |