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.
Medical Terms | Other Names | Learn More: HPO ID |
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80%-99% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
Sensorineural hearing impairment | 0000407 | |
30%-79% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Abnormality of the fontanelles or cranial sutures | 0000235 | |
Abnormality of the pulmonary artery |
Abnormality of lung artery
|
0004414 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Aplasia/Hypoplasia of the iris |
Absent/small iris
Absent/underdeveloped iris
[ more ]
|
0008053 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
0000501 | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Patent ductus arteriosus | 0001643 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Skin rash | 0000988 | |
Spastic diplegia | 0001264 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Low platelet count
|
0001873 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
5%-29% of people have these symptoms | ||
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Corneal opacity | 0007957 | |
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
0001250 | ||
Type I |
Type 1 diabetes
Type I diabetes
[ more ]
|
0100651 |
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Differential diagnosis of maternal rubella includes all infections responsible of maculo-papular rash (parvovirus B19, measles, streptococcus A, enteroviruses, cytomegalovirus (CMV), Epstein-Barr virus, human immunodeficiency virus) and other rashes from non infectious causes. Differential diagnosis of congenital rubella includes congenital infection with Toxoplasma gondii, enteroviruses, CMV, Herpes simplex virus, Varicella (see these terms), Syphilis.
Visit the
Orphanet disease page
for more information.
|
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.
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