Grieg cephalopolysyndactyly syndrome

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^[1]^[2]^[3]

Genetics

autosomal dominant
associated with defects in GLI3

Clinical manifestations

disorder affecting limb & craniofacial development
pre- & post-axial polydactyly
syndactyly of fingers & toes
macrocephaly
hypertelorism

Laboratory

see ARUP consult^[3]

More general terms

References

↑ OMIM https://mirror.omim.org/entry/175700
↑ Uniprot http://www.uniprot.org/uniprot/P10071.html
↑ ^3.0 ^3.1 ARUP Consult: Pallister-Hall/Greig Cephalopolysyndactyly Syndromes Testing https://arupconsult.com/ati/pallister-hall-greig-cephalopolysyndactyly-syndromes-testing

Database

OMIM: https://mirror.omim.org/entry/175700

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