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X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Disease definition

An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.

ORPHA:2958

Classification level: Disorder
  • Synonym(s):
    • Prieto-Badia-Mulas syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • ICD-11: LD90
  • OMIM: 309610
  • UMLS: C4304934
  • MeSH: -
  • GARD: 4482
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019) Hebrew (2021, pdf)

Additional information

Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.