Tag

Mendelian

All articles tagged with #mendelian

Cerebral Palsy Reframed as a Symptom Cluster, Not a Single Disease
science2 hours ago

Cerebral Palsy Reframed as a Symptom Cluster, Not a Single Disease

A review of 21 studies on cerebral palsy and whole-genome data from 460 children finds that only a small fraction of previously proposed CP genes have strong evidence of causality. The study suggests CP may be a collection of symptoms seen across various Mendelian diseases rather than a single genetic disorder, guiding a genotype–phenotype approach to testing and care.