Rare Nephrology News
Disease Profile
Autosomal dominant non-syndromic intellectual disability
Prevalence
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.
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.
0
Age of onset
-
ICD-10
F70 F71 F72 F73
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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 | ||
| Cerebral visual impairment | 0100704 | |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
| Poor speech | 0002465 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
| 5%-29% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormal morphology of the hippocampus | 0025100 | |
| Atonic |
0010819 | |
| Autistic behavior | 0000729 | |
| Bilateral generalized polymicrogyria | 0032410 | |
| Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Chorea | 0002072 | |
| Dilation of lateral ventricles | 0006956 | |
| Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
| Epileptic spasm | 0011097 | |
| Eyelid myoclonus | 0025097 | |
| Focal emotional seizure with laughing | 0010821 | |
| Focal impaired awareness seizure | 0002384 | |
| Focal motor seizure | 0011153 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Generalized myoclonic seizure | 0002123 | |
| Generalized tonic seizure | 0010818 | |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Intellectual disability, profound |
IQ less than 20
|
0002187 |
| Leukoencephalopathy | 0002352 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Oculogyric crisis | 0010553 | |
| Oral-pharyngeal |
0200136 | |
| 0002650 | ||
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
| Severe muscular |
Severely decreased muscle tone
|
0006829 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| Typical absence seizure | 0011147 | |
| Widened subarachnoid space | 0012704 | |
Learn more
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.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.