Orphanet: X linked intellectual disability dysmorphism cerebral atrophy syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.


Classification level: Disorder
  • Synonym(s):
    • Prieto-Badia-Mulas syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 309610
  • UMLS: C1839730
  • MeSH: -
  • GARD: 4482
  • MedDRA: -
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.