Orphanet: X linked intellectual disability hypotonic face syndrome
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X-linked intellectual disability-hypotonic face syndrome

Disease definition

Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.

ORPHA:73220

Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 309580
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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