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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
2 records shown · first 60HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
PMID 40468825 | PMCID PMC12226820 | DOI 10.1002/ana.27277 · Annals of neurology · 2025 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | developmental delay | “RESULTS: The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Pro493Leu | “The p.(Leu377His), p.(Pro493Leu), and p.(Gly587Asp) variants rendered HCN2 electrophysiologically silent and impaired membrane trafficking.” | 0.95 | hgvs_regex_v1 |
| gene | HCN2 | “OBJECTIVE: We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization-activated cyclic nucleotide (HCN) gated channel 2.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “RESULTS: The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21).” | 0.98 | phenotype_alias_lexicon_v2 |
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
PMID 32572202 | PMCID PMC7576150 | DOI 10.1038/s41431-020-0669-x · European journal of human genetics : EJHG · 2020 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | developmental delay | “Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Pro493Leu | “ES led to the identification of six novel biallelic MFSD2A variants (NG_053084.1, NM_032793.5: c.556+1G>A, c.748G>T; p.(Val250Phe), c.750_753del; p.(Cys251SerfsTer3), c.977G>A; p.(Arg326His), c.1386_1435del; p.(Gln462HisfsTer17), and c.1478C>T; p.(Pro493Leu)) and two recurrent variants (NM_032793.5: c.593C>T; p.(Thr198Met) and c.476C>T; p.(Thr159Met)).” | 0.95 | hgvs_regex_v1 |
| gene | MFSD2A | “Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.” | 0.98 | hgnc_dict_v1 |
| variant | c.556+1G>A | “ES led to the identification of six novel biallelic MFSD2A variants (NG_053084.1, NM_032793.5: c.556+1G>A, c.748G>T; p.(Val250Phe), c.750_753del; p.(Cys251SerfsTer3), c.977G>A; p.(Arg326His), c.1386_1435del; p.(Gln462HisfsTer17), and c.1478C>T; p.(Pro493Leu)) and two recurrent variants (NM_032793.5: c.593C>T; p.(Thr198Met) and c.476C>T; p.(Thr159Met)).” | 0.95 | hgvs_regex_v1 |