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

X-linked intellectual disability, Schimke type


Other Names:
Choreoathetosis with mental retardation X- linked
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 85285

Definition
X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2007

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
30%-79% of people have these symptoms
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] 		0001344
Choreoathetosis 0001266
Dyskinesia
Disorder of involuntary muscle movements
0100660
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Global developmental delay 0001263
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Poor head control 0002421
Poor suck
Poor sucking
0002033
Postnatal microcephaly 0005484
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
5%-29% of people have these symptoms
Ankle flexion contracture 0006466
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
Gastrostomy tube feeding in infancy 0011471
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hip contracture 0003273
Hydronephrosis 0000126
Hyperreflexia
Increased reflexes
0001347
Knee flexion contracture 0006380
Narrow nasal bridge
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] 		0000446
Vesicoureteral reflux 0000076
Percent of people who have these symptoms is not available through HPO
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
X-linked inheritance 0001417
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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 X-linked intellectual disability, Schimke type. Click on the link to view a sample search on this topic.

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