PropertyValue
?:definition
  • A rare, autosomal recessive inherited disorder caused by mutations in the FRAS1, FREM2, or GRIP1 genes. It is characterized by the presence of cryptophthalmos, cutaneous syndactyly, and genitourinary abnormalities.
  • A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all