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ATP1A3 and developmental delay are reported together in 2 articles.
Gene
ATP1A3
- HGNC
- HGNC:801
5articles
5mentions
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
2 records shown · first 60Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
PMID 38243045 | DOI 10.1007/s13258-023-01481-8 · Genes & genomics · 2024 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATP1A3 | “Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Developmental delay was reported among 84.62% in cognitive, 92.31% in sensorimotor, 80.77% in speech, and 76.92% in socioemotional.” | 0.98 | phenotype_alias_lexicon_v2 |
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.
PMID 28900444 | PMCID PMC5576389 | DOI 10.1155/2017/5769837 · Case reports in medicine · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATP1A3 | “It is an extremely rare genetic disorder related to ATP1A3 gene mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Due to the rarity of this disease in Saudi Arabia, a genotype-phenotype correlation is not feasible.” | 0.95 | saudi_context_rules_v1 |