Orpha Number: 408
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 | ||
Adrenocortical hypoplasia |
Small adrenal cortex
|
0008182 |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
EMG abnormality | 0003457 | |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Metabolic acidosis | 0001942 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Myopathy |
Muscle tissue disease
|
0003198 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
Reduced tendon reflexes | 0001315 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
30%-79% of people have these symptoms | ||
Cryptorchidism |
Undescended testis
Undescended testes
[ more ]
|
0000028 |
0002353 | ||
Hyperlordosis |
Prominent swayback
|
0003307 |
0000939 | ||
0002650 | ||
0001250 | ||
5%-29% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Percent of people who have these symptoms is not available through HPO | ||
Coma | 0001259 | |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Episodic vomiting | 0002572 | |
Frontal bossing | 0002007 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Low blood sugar
|
0001943 | |
Increased urinary glycerol | 0040301 | |
Ketoacidosis | 0001993 | |
Lethargy | 0001254 | |
Loss of consciousness |
Passing out
|
0007185 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Muscular dystrophy | 0003560 | |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Psychomotor retardation | 0025356 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
0001423 | ||
0001417 | ||
0001419 |
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.
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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