Newly Diagnosed? Start Here 💙
Complete guide to DLL1 — what it means, body systems affected, your variant explained, genetic counselors by ZIP code, and more.
The World's First DLL1 Patient
Research Platform
Uniting every family affected by DLL1 pathogenic variants — transforming lived experience into research-grade data that accelerates discovery and improves care.
Quick Actions
Common tasks and data entry
Phenotype Frequency Map
HPO-coded features across 247 registered patients
Recent Activity
Latest updates and entries
Community
Popular discussions
AI-Powered Insights
Pattern recognition across the global DLL1 registry
Platform Growth
Registry expansion over time
Active Studies
IRB-approved research
DLL1 Natural History Study
RecruitingBoston Children's
Feeding Interventions
ActiveCHOP
Genotype-Phenotype Analysis
ActiveHarvard
Latest DLL1 Publications
Auto-curated from PubMed · Updated daily
DLL1 haploinsufficiency causes intellectual disability and autism spectrum disorder
Nature Genetics
Harvard Medical School
Notch signaling dysregulation in DLL1 pathogenic variants: clinical and molecular characterization
NEJM
Boston Children's Hospital
Genotype-phenotype correlations in DLL1-associated neurodevelopmental syndrome
Am. J. of Human Genetics
Broad Institute
DLL1 Connect · Research-Grade Patient Registry · HIPAA & GDPR Compliant · IRB Protocol #2024-DLL1-001