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Pseudoprogeria syndrome

Disease definition

Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.

ORPHA:2985

Classification level: Disorder
  • Synonym(s):
    • Absent eyebrows and eyelashes-intellectual disability syndrome
    • Hal-Berg-Rudolph syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 200130
  • UMLS: C0796125
  • MeSH: -
  • GARD: 415
  • MedDRA: -
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