National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Early-onset parkinsonism-intellectual disability syndrome


Other Names:
X-linked recessive basal ganglia disorder with mental retardation; Laxova Brown Hogan syndrome; Waisman syndrome; X-linked recessive basal ganglia disorder with mental retardation; Laxova Brown Hogan syndrome; Waisman syndrome; WSN; Basal ganglia disorder with mental retardation; BGMR; Laxova-Opitz syndrome See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2379

Definition
Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2006

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of movement
Movement disorder
Unusual movement
[ more ] 		0100022
Cogwheel rigidity 0002396
Frontal bossing 0002007
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
30%-79% of people have these symptoms
Seizure 0001250
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
5%-29% of people have these symptoms
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Percent of people who have these symptoms is not available through HPO
Bradykinesia
Slow movements
Slowness of movements
[ more ] 		0002067
Dysarthria
Difficulty articulating speech
0001260
Dyskinesia
Disorder of involuntary muscle movements
0100660
Global developmental delay 0001263
Lewy bodies 0100315
Megalencephaly 0001355
Parkinsonism 0001300
Poor speech 0002465
Resting tremor
Tremor at rest
0002322
Shuffling gait
Shuffled walk
0002362
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Early-onset parkinsonism-intellectual disability syndrome. Click on the link to view a sample search on this topic.

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