Disease

Muenke Syndrome

Definition

A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.

Synonyms

FGFR3-related craniosynostosis

Cross References

GARD:7097
MESH:C537369

Parent Terms

autosomal dominant disease
craniosynostosis

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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