ring chromosome 5
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).
MONDO:0700012
chromosome 5 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
R5
related
Ring 5
related
Ring chromosome type 5
exact
chromosome 5 ring
related
rose cluster 5
exact