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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 60Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.
PMID 38550721 | PMCID PMC10973697 | DOI 10.2147/IMCRJ.S447466 · International medical case reports journal · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | skeletal dysplasia | “Jeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal recessive skeletal dysplasia with heterogeneous genetic and clinical phenotypes, which primarily affects cartilage and bone development.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.9041G>T | “Whole-exome sequencing (WES) revealed a homozygous mutation in the DYNC2H1 (NM_001377.3) gene, namely, the c.9041G>T NP_001368.2: p.(Arg3014Ile) missense variant, which results in the substitution of the arginine codon at amino acid position 3014 with an isoleucine codon.” | 0.95 | hgvs_regex_v1 |
| gene | DYNC2H1 | “Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “An echocardiogram on the 2nd day of life showed severe pulmonary hypertension (PHTN).” | 0.98 | phenotype_alias_lexicon_v2 |