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

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome


Other Names:
Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract; Bassoe syndrome
This disease is grouped under:

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 the ovary
Abnormality of the ovaries
0000137
Congenital muscular dystrophy 0003741
Decreased testicular size
Small testes
Small testis
[ more ] 		0008734
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hypogonadism
Decreased activity of gonads
0000135
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] 		0000298
Muscular hypotonia
Low or weak muscle tone
0001252
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cubitus valgus
Outward turned elbows
0002967
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Ptosis
Drooping upper eyelid
0000508
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] 		0006610
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
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Last updated: 7/1/2020

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 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome. Click on the link to view a sample search on this topic.

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