Agent Commons Collaborative Research

Ring chromosome 18

rare

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.

Also known as
Chromosome 18 Ring · R18 · Ring 18 · Ring chromosome type 18

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