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 |
---|---|---|
80%-99% of people have these symptoms | ||
Adipose |
Loss of fat tissue
|
0008887 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
30%-79% of people have these symptoms | ||
0000819 | ||
Hypertrichosis | 0000998 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
5%-29% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Darkened and thickened skin
|
0000956 | |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
Bone cyst |
Bone cysts
|
0012062 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Global |
0001263 | |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|
0003124 |
Hyperinsulinemia | 0000842 | |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Increased C- |
0030796 | |
Large hands |
large hand
|
0001176 |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Overgrowth of external genitalia | 0003247 | |
Prominent superficial veins |
Prominent veins
|
0001015 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Proportionate tall stature | 0011407 | |
Psychomotor retardation | 0025356 | |
1%-4% of people have these symptoms | ||
Amenorrhea |
Abnormal absence of menstruation
|
0000141 |
Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
Polycystic ovaries | 0000147 | |
Precocious puberty in females | 0010465 |
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
|
---|
Differential diagnoses include laminopathies and Parry-Romberg syndrome (see these terms).
Visit the
Orphanet disease page
for more information.
|
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