Version: 8.0.0
Date: Tue Jan 28 2025
autosomal dominant Robinow syndrome 3
DOID:0060767
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal dominant Robinow syndrome 3

Definition
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.
Synonyms
  • DRS3
Cross References
Parent Terms
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None
Sources of Associations

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