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Hirschsprung disease, cardiac defects & autonomic dysfunction
Genetics:
- associated with defects in ECE1
Clinical manifestations:
- form of Hirschsprung disease
- skip-lesions defects
- craniofacial abnormalities & other dysmorphic features
- autonomic dysfunction
General
Hirschsprung disease; congenital megacolon; colonic aganglionosis; aganglionic megacolon
Database Correlations
OMIM 600423
MORBIDMAP 600423
References
OMIM :accession 600423