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CP and neurodevelopmental disorder are reported together in 1 article.

Gene

CP

HGNC
HGNC:2295
20articles
20mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

PMID 41282771 | PMCID PMC12637781 | DOI 10.1101/2025.11.04.25339178 · medRxiv : the preprint server for health sciences · 2025 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneCP“Cerebral palsy (CP) is a neurodevelopmental disorder of motor function, with genetic etiologies, particularly de novo variants, identified in approximately one-third of cases.”0.98hgnc_dict_v1
phenotypeneurodevelopmental disorder“Cerebral palsy (CP) is a neurodevelopmental disorder of motor function, with genetic etiologies, particularly de novo variants, identified in approximately one-third of cases.”0.98phenotype_alias_lexicon_v2
geneSUCO“We experimentally validated a role for SUCO variants in CP and newly identified a role for mid-gestational migrating excitatory neurons in the disorder.”0.98hgnc_dict_v1
populationPopulation“Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy. The contribution of consanguinity - long-recognized as a CP risk factor - has remained undefined. Here, we report findings from 188 primarily consanguineous Middle Eastern families with CP and identified putative causative genes in nearly three-quarters. The majority demonstrated recessive inheritance, although multi-level consanguinity and multilocus pathogenic variants complicated Mendelian assortment analyses.”0.80saudi_context_rules_v1