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CA2 and intellectual disability are reported together in 3 articles.

Gene

CA2

6articles

6mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

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.

3 records shown · first 60

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	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
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

PMID 30510438 | PMCID PMC6231439 | DOI 10.2147/TACG.S172176 · The application of clinical genetics · 2018 · 8 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	CA2	“In the index case (111-4), we identified four homozygous mutations: chromosome 8, intron2 (c.232+1G>A) at CA2 gene; chromosome 15, exon 32 (c.6100C>T) at the SPG11; chromosome 5, exon 11 (c.1015G>A) at the MCCC2; and chromosome 9, exon 9 (C.1193g>t) at the LARP gene.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.”	0.93	phenotype_alias_lexicon_v2
gene	SPG11	“In the index case (111-4), we identified four homozygous mutations: chromosome 8, intron2 (c.232+1G>A) at CA2 gene; chromosome 15, exon 32 (c.6100C>T) at the SPG11; chromosome 5, exon 11 (c.1015G>A) at the MCCC2; and chromosome 9, exon 9 (C.1193g>t) at the LARP gene.”	0.98	hgnc_dict_v1
gene	MCCC2	“In the index case (111-4), we identified four homozygous mutations: chromosome 8, intron2 (c.232+1G>A) at CA2 gene; chromosome 15, exon 32 (c.6100C>T) at the SPG11; chromosome 5, exon 11 (c.1015G>A) at the MCCC2; and chromosome 9, exon 9 (C.1193g>t) at the LARP gene.”	0.98	hgnc_dict_v1

PMID 28509178 | PMCID PMC5411668 | DOI 10.1007/s13730-015-0205-y · CEN case reports · 2016 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	CA2	“Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation.”	0.93	phenotype_alias_lexicon_v2
population	Saudi Arabia	“Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity.”	0.95	saudi_context_rules_v1