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Microcephalic primordial dwarfism, Toriello type

Orpha number ORPHA2643
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.1
ICD-O -
OMIM
UMLS
  • C1855089
MeSH
  • C537321
MedDRA -

Summary

Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.

Expert reviewer(s)

  • Dr Martine LE MERRER

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