Orpha Number: 272
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 | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
EMG abnormality | 0003457 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Global |
0001263 | |
Hypoglycosylation of alpha-dystroglycan | 0030046 | |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
|
0000298 |
Muscular dystrophy | 0003560 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Myopathy |
Muscle tissue disease
|
0003198 |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
Type II lissencephaly | 0007260 | |
30%-79% of people have these symptoms | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
0002353 | ||
Too much cerebrospinal fluid in the brain
|
0000238 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Pectus excavatum |
Funnel chest
|
0000767 |
0001250 | ||
Ventriculomegaly | 0002119 | |
Weak cry | 0001612 | |
5%-29% of people have these symptoms | ||
Aplasia/Hypoplasia of the |
0007370 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Dilated |
Stretched and thinned heart muscle
|
0001644 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Exaggerated startle response | 0002267 | |
0000501 | ||
Holoprosencephaly | 0001360 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Optic atrophy | 0000648 | |
Retinal dysplasia | 0007973 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
Percent of people who have these symptoms is not available through HPO | ||
Agenesis of corpus callosum | 0001274 | |
Agyria | 0031882 | |
Areflexia |
Absent tendon reflexes
|
0001284 |
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 |
0000007 | ||
Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
Cerebellar cyst | 0002350 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
0003741 | ||
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 |
Encephalocele | 0002084 | |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
Hypoplasia of the pyramidal tract | 0007348 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscle weakness |
Muscular weakness
|
0001324 |
Myocardial fibrosis | 0001685 | |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Polymicrogyria |
More grooves in brain
|
0002126 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Retinal detachment |
Detached retina
|
0000541 |
0002650 | ||
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Spinal rigidity |
Reduced spine movement
|
0003306 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Transposition of the great arteries | 0001669 |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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