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12q14 microdeletion syndrome

Disease definition

12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.

ORPHA:94063

Classification level: Disorder
  • Synonym(s):
    • Del(12)(q14)
    • Deletion 12q14
    • Monosomy 12q14
    • Osteopoikilosis-short stature-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Childhood
  • ICD-10: Q93.5
  • ICD-11: LD2F.1Y
  • OMIM: 166700
  • UMLS: C4305140
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2007) Français (2007) Nederlands (2007)

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

Specialised Social Services

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.