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Goldberg-Shprintzen megacolon syndrome
Pathology:
- microcephaly
- mental retardation
- facial dysmorphism
Genetics:
- associated with defects in KIAA1279 gene
Clinical manifestations:
- phenotypes related to Hirschsprung disease
General
genetic syndrome (multisystem disorder)
References
UniProt :accession Q96EK5