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Human Disease

autosomal dominant Robinow syndrome 2

Term ID
DOID:0060765
Synonyms
  • DRS2
Definition
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (2)
References
Ontology
Human Disease   ( DOID:0060765 )
Relationships
is a type of
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Genes Involved
Zebrafish Models