ring chromosome 12
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.
MONDO:0700019
chromosome 12 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
R12
related
Ring 12
related
Ring chromosome type 12
exact
chromosome 12 ring
related