ring chromosome 13
Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.
MONDO:0002254
syndromic disease
is_a
MONDO:0700020
chromosome 13 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
R13
related
Ring 13
related
Ring chromosome type 13
exact
chromosome 13 ring
related