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ASPM and developmental delay are reported together in 2 articles.
Gene
ASPM
- HGNC
- HGNC:19048
16articles
16mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
intellectual disability 5epilepsy 4breast cancer 3neurodevelopmental disorder 3developmental delay 2Down syndrome 1Klinefelter syndrome 1asthma 1
Reported variants (articles · ClinVar status)
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 60Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
PMID 38847106 | DOI 10.1177/08830738241252848 · Journal of child neurology · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ASPM | “The most common gene defect was ASPM, which is responsible for primary microcephaly type 5 and was seen in 10 cases (19%).” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Developmental disability was observed in 40 cases (84%), whereas only 8 cases (16%) had borderline IQ or mild developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PLK1 | “A novel PLK1 gene pathogenic mutation was seen in 3 cases (6%).” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Background: Genetic microcephaly is linked to an increased risk of developmental disabilities, epilepsy, and motor impairment.” | 0.98 | phenotype_alias_lexicon_v2 |
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.
PMID 35089071 | DOI 10.1089/gtmb.2021.0231 · Genetic testing and molecular biomarkers · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ASPM | “A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Results: Affected individuals had characteristic features, including small head, receding forehead, mild to moderate intellectual disability, developmental delay, short stature, apraxia, and behavioral anomalies.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Results: Affected individuals had characteristic features, including small head, receding forehead, mild to moderate intellectual disability, developmental delay, short stature, apraxia, and behavioral anomalies.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.6854_6855del | “We mapped the disease gene locus and detected a rare frameshift deletion c.6854_6855del (p.(Leu2285GlnfsTer32)) in exon 18 of ASPM.” | 0.95 | hgvs_regex_v1 |