Term Name: | Fraser syndrome |
---|---|
Synonyms: | cryptophthalmos with other malformations |
Definition: | A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. |
Ontology: | Human Disease [DOID:0090001] ( DOID:0090001 ) |