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SAMHD1 and neurodevelopmental disorder are reported together in 1 article.
Gene
SAMHD1
- HGNC
- HGNC:15925
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Neurodevelopmental disorder
- HPO
- HP:0012759
450articles
450mentions
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 60Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report.
PMID 34852373 | DOI 10.1055/s-0041-1739131 · Neuropediatrics · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SAMHD1 | “Targeted mutation analysis revealed a homozygous c.1411-2A > G splice site variant in the SAMHD1 gene, consistent with a diagnosis of Aicardi-Goutières syndrome type 5 (AGS5), an autosomal recessive condition with multisystem involvement.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | stroke | “Stroke in infancy is a rare phenomenon but can lead to significant long-term disability.” | 0.98 | phenotype_alias_lexicon_v2 |