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Hirschsprung disease - nail hypoplasia - dysmorphism

Synonym(s) Al Gazali-Donnai-Muller syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q43.1
MeSH -
MedDRA -


Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features.

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