ring chromosome 6
Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.
MONDO:0700013
chromosome 6 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
Chromosome 6 Ring
exact
R6
related
Ring 6
related
Ring chromosome type 6
exact
chromosome 6 ring
related
rose cluster 6
exact