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Microcephalic primordial dwarfism, Toriello type

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Antenatal
  • Q87.1
  • C1855089
  • C537321
MedDRA -


Disease definition

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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