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CYP11B2 and developmental delay are reported together in 1 article.
Gene
CYP11B2
- HGNC
- HGNC:2592
3articles
3mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
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
1 records shown · first 60A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism.
PMID 29201470 | PMCID PMC5672603 | DOI 10.1155/2017/8431475 · Case reports in endocrinology · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP11B2 | “A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay.” | 0.95 | saudi_context_rules_v1 |