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MBOAT7 and intellectual disability are reported together in 1 article.
Gene
MBOAT7
- HGNC
- HGNC:15505
4articles
4mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
COVID-19 1epilepsy 1intellectual disability 1lysosomal storage disease 1neurodevelopmental disorder 1
Reported variants (articles · ClinVar status)
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
1 records shown · first 60Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
PMID 31852446 | PMCID PMC6921424 | DOI 10.1186/s12881-019-0907-7 · BMC medical genetics · 2019 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MBOAT7 | “Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “MBOAT7 gene variants have recently been identified as a cause of intellectual disability (ID), seizures and autistic features.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HEXB | “Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “This study consolidates variation within MBOAT7 as a cause of neurodevelopmental disorder, broadens knowledge of the clinical outcomes associated with MBOAT7-related disorder, and confirms the likely presence of a regionally prevalent founder variant (c.758_778del; p.Glu253_Ala259del) in Pakistan.” | 0.98 | phenotype_alias_lexicon_v2 |