Hirschsprung disease with microcephaly & iris coloboma

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^[1]

Introduction

associated with mutation in gene for smad-interacting protein 1

More general terms

Hirschsprung disease

References

↑ Wakamatsu et al. Nature Genetics 27:369-70 2001

Database

OMIM: https://mirror.omim.org/entry/235730
OMIM: https://mirror.omim.org/entry/605802

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