ring chromosome 21
Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.
MONDO:0700091
ring chromosome disorder
is_a
MONDO:0700124
chromosome 21 disorder
is_a
Chromosome 21 Ring
exact
R21
related
Ring 21
related
Ring chromosome type 21
exact
chromosome 21 en anneau
exact
chromosome 21 ring
related