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Microcephalic primordial dwarfism, Toriello type

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.

ORPHA:2643

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.1
  • OMIM: 251190
  • UMLS: C1855089
  • MeSH: C537321
  • GARD: 3602
  • MedDRA: -

Additional information

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