Autosomal dominant intellectual disability 49

Title

Other Names:

TRIP12 mutations; TRIP12 mutation

Summary Summary

Autosomal dominant intellectual disability 49 is a rare disorder characterized by delayed neurologic development, mild intellectual disability, and learning difficulties.^[1]^[2] In many cases, autistic features or behavioral abnormalities are also present. Additional symptoms may include low muscle tone; delayed speech; seizures; crossed eyes (strabismus); distinctive facial features (such as up-slanting palpebral fissures and a wide, down-turning mouth); and mild abnormalities of the hands or feet. No internal organ abnormalities have been described.^[2]^[3] This disorder is caused by pathogenic variants (mutations) in the TRIP12 gene. Inheritance is autosomal dominant, but most cases are sporadic, occurring for the first time in a person with no family history of the disorder. Treatment aims to address the symptoms present in each person.^[2]

Last updated: 7/9/2018

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Seizures	Seizure	0001250
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape	Unusual facial appearance	0001999
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Autosomal dominant inheritance		0000006
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
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Global developmental delay		0001263
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyperactivity	More active than typical	0000752
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long philtrum		0000343
Narrow palpebral fissure	Small opening between the eyelids	0045025
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Wide mouth	Broad mouth Large mouth [ more ]	0000154

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Last updated: 6/1/2019

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Organizations 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.

Social Networking Websites

RareConnect has an online community for Autosomal dominant intellectual disability 49. RareConnect is a platform where rare disease patients, families and patient organizations can develop online communities and conversations across continents and languages. RareConnect partners with the world's leading rare disease patient groups to offer global online communities allowing people to connect around issues which affect them while living with a rare disease.

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Learn More 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

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.

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References References

Autosomal Dominant Mental Retardation 49; MRD49. OMIM. 2017; https://www.omim.org/entry/617752.
Bramswig NC, Lüdecke H-J, Pettersson M, et al.. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics. 2017; 136(2):179-192. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5821420/.
Zhang J, Gambin T, Yuan B, et al. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Human genetics. 2017; 136(4):377-386. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5543723/.

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