recombinant 8 syndrome
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
MONDO:0003847
hereditary disease
is_a
Duplication 8q/deletion 8p
exact
Rec(8) syndrome
exact
Rec8 syndrome
exact
Recombinant chromosome 8 syndrome
exact
San Luis Valley recombinant chromosome 8 syndrome
related
San Luis Valley syndrome
exact