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Disease Profile
Autosomal dominant intellectual disability 40
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
CHAMP1 gene mutation; CHAMP1 mutations; CHAMP1-associated intellectual disability syndrome
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Percent of people who have these symptoms is not available through HPO | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
0000006 | ||
Symptoms present at birth
|
0003577 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Facial |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Short philtrum | 0000322 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Tented upper lip vermilion | 0010804 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Organizations
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.
Organizations Supporting this Disease
-
CHAMP1 Research Foundation
1367 Whitewood Ave.
Spring Hill, FL 34609
Telephone: (813) 600-7950
E-mail: https://champ1foundation.org/champ1/connect/
Website: https://champ1foundation.org/
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.
Where to Start
- The Simons Searchlight is an online community that supports families with rare genetic changes (also called "genomic variants") associated with features of autism and developmental delay. Simons VIP Connect provides access to resources, information, and family support. They also provide an opportunity for families to participate in research. Click on the link to access information about the CHAMP1 gene.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.