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CA2 and developmental delay are reported together in 2 articles.
Gene
CA2
- HGNC
- HGNC:1373
6articles
6mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.
PMID 39667299 | DOI 10.1016/j.braindev.2024.104309 · Brain & development · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CA2 | “Most patients displayed homozygous pathogenic CA2 gene variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “For neurodevelopmental symptoms, 60.0 % of patients presented with global developmental delay, 20.0 % had intellectual disability, and the remaining 20.0 % had normal development.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “For neurodevelopmental symptoms, 60.0 % of patients presented with global developmental delay, 20.0 % had intellectual disability, and the remaining 20.0 % had normal development.” | 0.98 | phenotype_alias_lexicon_v2 |
Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.
PMID 38328522 | PMCID PMC10848787 | DOI 10.1177/2333794X241230873 · Global pediatric health · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CA2 | “Whole exome sequencing (WES) was sent, and result was consistent with autosomal recessive osteopetrosis type III with renal tubular acidosis (RTA) evident by pathologic variant on CA2 gene confirming the diagnosis of carbonic anhydrase II (CA II) deficiency consistent with the unique Arabic mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Unlike other subtypes of osteopetrosis, the presence of developmental delay and relative infrequency of skeletal fractures may not be a typical signs of symptoms indolent trajectory.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | inborn error of metabolism | “Carbonic anhydrase II deficiency is an extremely rare inborn error of metabolism that constitutes a triad osteopetrosis, renal tubular acidosis and intracerebral calcification.” | 0.98 | phenotype_alias_lexicon_v2 |