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Human Disease

Fraser syndrome

Term ID
DOID:0090001
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. (4)
References
Ontology
Human Disease   ( DOID:0090001 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models