ring chromosome 1
Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.
MONDO:0700008
chromosome 1 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
R1
related
Ring 1
exact
Ring chromosome type 1
exact
chromosome 1 ring
related
chromosome 1, ring
related
r(1) syndrome
exact