Orpha Number: 300570
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 |
---|---|---|
30%-79% of people have these symptoms | ||
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Delayed ability to sit | 0025336 | |
Delayed fine motor development | 0010862 | |
Esotropia |
Inward turning cross eyed
|
0000565 |
Expressive language delay | 0002474 | |
Feeding difficulties in infancy | 0008872 | |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Inability to walk | 0002540 | |
Infantile axial |
0009062 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Partial agenesis of the corpus callosum | 0001338 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Poor speech | 0002465 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Severe global |
0011344 | |
Simplified gyral pattern | 0009879 | |
Spastic |
0002497 | |
Type II lissencephaly | 0007260 | |
5%-29% of people have these symptoms | ||
Abnormal autonomic nervous system physiology | 0012332 | |
Abnormal best corrected visual acuity test | 0030534 | |
Abnormal saccadic eye movements | 0000570 | |
Abnormality of thalamus morphology | 0010663 | |
Agenesis of the anterior commissure | 0030302 | |
Bilateral sensorineural hearing impairment | 0008619 | |
Cerebellar vermis hypoplasia | 0001320 | |
0001491 | ||
Congenital |
0011451 | |
Cubitus valgus |
Outward turned elbows
|
0002967 |
Delayed social development | 0012434 | |
Dilation of lateral ventricles | 0006956 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Difficulty articulating speech
|
0001260 | |
Dysgenesis of the hippocampus | 0025101 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Flat occiput | 0005469 | |
Focal |
0040168 | |
Genu valgum |
Knock knees
|
0002857 |
Grasp reflex | 0030903 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypoplasia of the olfactory bulb | 0040326 | |
Impaired mastication |
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ]
|
0005216 |
Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ]
|
0000735 |
Insomnia |
Difficulty staying or falling asleep
|
0100785 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Kyphoscoliosis | 0002751 | |
Large basal ganglia | 0007048 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Mood changes |
Moody
|
0001575 |
Normal pressure |
0002343 | |
Oculomotor apraxia | 0000657 | |
Optic nerve hypoplasia | 0000609 | |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
Seizure | 0001250 | |
Short attention span |
Poor attention span
Problem paying attention
[ more ]
|
0000736 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Small basal ganglia | 0012697 | |
Small hand |
Disproportionately small hands
|
0200055 |
Spastic diplegia | 0001264 | |
Spastic tetraplegia | 0002510 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
Thoracic |
0002943 | |
Torticollis |
Wry neck
|
0000473 |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
Percent of people who have these symptoms is not available through HPO | ||
Agenesis of corpus callosum | 0001274 | |
0000006 | ||
Congenital onset |
Symptoms present at birth
|
0003577 |
Cortical dysplasia | 0002539 | |
Global developmental delay | 0001263 | |
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
Lissencephaly |
Fewer or absent grooves in brain
|
0001339 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
0003828 |
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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