Orphanet: Waisman syndrome
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

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

Early-onset parkinsonism-intellectual disability syndrome

Disease definition

A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.

ORPHA:2379

Classification level: Disorder
  • Synonym(s):
    • Laxova-Opitz syndrome
    • Waisman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: G20
  • OMIM: 311510
  • UMLS: C0796195
  • MeSH: -
  • GARD: 3203
  • 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.