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Human Disease

autosomal dominant Robinow syndrome 1

Term ID
DOID:0060766
Synonyms
  • DRS1
Definition
A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (2)
References
Ontology
Human Disease   ( DOID:0060766 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations