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Multiple epiphyseal dysplasia, Al-Gazali type

Disease definition

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

ORPHA:166024

Classification level: Disorder
  • Synonym(s):
    • Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.3
  • OMIM: 607131
  • UMLS: C1846722
  • MeSH: -
  • GARD: -
  • MedDRA: -
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