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SLC13A5 and intellectual disability are reported together in 3 articles.
Gene
SLC13A5
- HGNC
- HGNC:23089
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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
3 records shown · first 60Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
PMID 38113697 | DOI 10.1016/j.pediatrneurol.2023.10.005 · Pediatric neurology · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC13A5 | “Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “RESULTS: We present four families with global developmental delay, intellectual disability, and defective tooth development with four novel homozygous mutations in SLC13A5.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “METHODS: Four families with recessively inherited epileptic encephalopathy were sequenced by clinically accredited laboratories using commercially available epilepsy gene panels.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “RESULTS: We present four families with global developmental delay, intellectual disability, and defective tooth development with four novel homozygous mutations in SLC13A5.” | 0.98 | phenotype_alias_lexicon_v2 |
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
PMID 36923948 | PMCID PMC10008858 | DOI 10.3389/fped.2022.1051534 · Frontiers in pediatrics · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC13A5 | “Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Some patients showed other clinical features such as muscle weakness, motor difficulties, intellectual disability, microcephaly, and speech problems in addition to additional abnormalities revealed by electroencephalography (EEGs) and magnetic resonance imaging (MRI).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “The affected individuals presented with neonatal seizures, developmental delay, and significant defects in tooth development.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “The affected individuals presented with neonatal seizures, developmental delay, and significant defects in tooth development.” | 0.93 | phenotype_alias_lexicon_v2 |
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
PMID 33797191 | PMCID PMC8445493 | DOI 10.1002/ajmg.a.62192 · American journal of medical genetics. Part A · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC13A5 | “A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “The three affected male siblings exhibit neonatal-onset epilepsy with fever-sensitivity, recurrent status epilepticus, global developmental delay/intellectual disability (GDD/ID), and other variable neurological findings as shared phenotypical features of DEE25.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “The three affected male siblings exhibit neonatal-onset epilepsy with fever-sensitivity, recurrent status epilepticus, global developmental delay/intellectual disability (GDD/ID), and other variable neurological findings as shared phenotypical features of DEE25.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “The three affected male siblings exhibit neonatal-onset epilepsy with fever-sensitivity, recurrent status epilepticus, global developmental delay/intellectual disability (GDD/ID), and other variable neurological findings as shared phenotypical features of DEE25.” | 0.98 | phenotype_alias_lexicon_v2 |