RAB5C-Related Neurodevelopmental Disorder with Macrocephaly Deep Research Fallback

Scope

No provider-generated deep research artifact was present on the WP-068 branch. This fallback audit documents the literature scope used to curate and review the RAB5C-related entry from cached PubMed references.

Evidence Scope Used For Curation

• PMID:37552066 for the RAB5C cohort, heterozygous de novo variant evidence, RAB5C endocytic-pathway biology, damaging biochemical effects on nucleotide exchange and effector interactions, C. elegans and zebrafish functional evidence, and the clinical phenotype of macrocephaly with mild-to-moderate developmental delay plus a smaller severe seizure/intellectual-disability subset.

Curation Conclusions

The supported model is heterozygous pathogenic RAB5C variation disrupting the early endocytic Rab GTPase cycle and downstream endocytic pathway function. The current evidence supports a provisional gene-defined neurodevelopmental entry with macrocephaly, developmental delay, intellectual disability, and seizures; no exact local MONDO disease class was identified on this branch.