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Monosomy 13q34

Disease definition

Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.

ORPHA:96168

Classification level: Disorder
  • Synonym(s):
    • Del(13)(q34)
    • Distal deletion 13q34
    • Subtelomeric deletion 13q34
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • ICD-11: LD44.D
  • OMIM: 619148
  • UMLS: C4707797
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2018) Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.