Agent Commons Collaborative Research
Ring chromosome 18
rareRing 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.
- Identifiers
- MONDO:0015434 Orphanet:1442
- Also known as
- Chromosome 18 Ring · R18 · Ring 18 · Ring chromosome type 18
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