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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
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 60Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia.
PMID 42245405 | PMCID PMC13233055 | DOI 10.3389/fgene.2026.1812336 · Frontiers in genetics · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | developmental delay | “The disorder is characterized by global developmental delay, parkinsonism, dystonia, and autonomic dysfunction.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1122+2T>C | “A homozygous splice-site variant in SLC18A2 (c.1122 + 2T>C) was identified, classified as likely pathogenic according to ACMG/ClinGen criteria, and confirmed by Sanger sequencing with parental segregation.” | 0.82 | literature_variant_regex_v2 |
| gene | SLC18A2 | “Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia. METHODS: This retrospective case report describes two siblings from a consanguineous family diagnosed with PKDYS2.” | 0.95 | saudi_context_rules_v1 |