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Chudley-Lowry-Hoar syndrome

Disease definition

An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies).

ORPHA:93971

Classification level: Disorder
  • Synonym(s):
    • Chudley-Lowry syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 309580
  • UMLS: -
  • MeSH: -
  • GARD: 1357
  • MedDRA: -
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