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 )

Relationships
is a type of: autosomal recessive disease syndrome
has subtype: Fraser syndrome 1 Fraser syndrome 2 Fraser syndrome 3