ring chromosome 18
Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
MONDO:0700091
ring chromosome disorder
is_a
MONDO:0700125
chromosome 18 disorder
is_a
Chromosome 18 Ring
exact
R18
related
Ring 18
related
Ring chromosome type 18
exact
chromosome 18 ring
related