Clinician Resources

Technical resources, databases, and historical data to support medical professionals in the diagnosis and management of CLTC-related Intellectual Disability.

Molecular Genetics & Pathogenesis
Technical breakdown of the CHC1 protein and clathrin-mediated endocytosis pathways.
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Clinical Analysis
Correlations between specific variants (missense vs. truncating) and clinical presentation.
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History of CLTC-ID
A timeline of key milestones in the discovery and characterisation of CLTC-related disorders.
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Featured
How "Rare" Is CLTC-ID?
Raw ClinVar variant classifications for the CLTC gene — Pathogenic, Likely-Pathogenic, and VUS counts — alongside disease-context comparisons with similar neurodevelopmental disorders.
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Existing Treatments
Current management strategies — multidisciplinary therapy teams, antiepileptic options, movement-disorder considerations, and off-label pharmacology.
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Gene Therapy Solutions
Overview of gene-therapy vectors (AAV), RNA-based strategies, and the current research pipeline as they apply to CLTC-related disorders.
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Animal & Cell Models
Available biological research models (animal and cell lines) for studying Clathrin Heavy Chain (CLTC) variants and developing therapeutics.
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Active Studies & Trials
Active natural history studies, clinical trials, and research registries for CLTC-ID, including Simons Searchlight.
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Printable One-Page Clinical Summary

Genotype-phenotype table, prevalence estimates, and variant classification — formatted for print or PDF.