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Distal monosomy 1q

Disease definition

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

ORPHA:36367

Classification level: Disorder
  • Synonym(s):
    • Distal deletion 1q
    • Monosomy 1qter
    • Telomeric deletion 1q
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • OMIM: 612337
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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