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Disease Profile
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Cortical dysplasia, complex, with other brain malformations 1
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 300570
Symptoms
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-onset |
Seizure affecting one half of brain
|
0007359 |
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 | |
Learn moreThese 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. In-Depth Information
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