GATAD2B-associated neurodevelopmental disorder

Title

Other Names:

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Categories:

Congenital and Genetic Diseases

Summary Summary

GATAD2B-associated neurodevelopmental disorder is an inherited condition that is characterized by severe intellectual disability. Other signs and symptoms vary but may include limited speech development, poor muscle tone in children (childhood hypotonia), thin hair, distinctive facial features, and long fingers. The condition is caused by changes (mutations) in the GATAD2B gene or a loss (deletion) of the part of the chromosome 1 where the GATAD2B gene is located (1q21.3). The condition may occur de novo or be inherited in an autosomal dominant manner. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.^[1]

Last updated: 11/11/2015

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
30%-79% of people have these symptoms
Abnormality of the cerebral white matter		0002500
Absence seizure	Brief seizures with staring spells	0002121
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Delayed myelination		0012448
Facial grimacing		0000273
Fine hair	Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ]	0002213
Global developmental delay		0001263
Hyperactivity	More active than typical	0000752
Hyperopic astigmatism		0000484
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Long fingers		0100807
Poor speech		0002465
Short philtrum		0000322
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thin upper lip vermilion	Thin upper lip	0000219
Wide mouth	Broad mouth Large mouth [ more ]	0000154
5%-29% of people have these symptoms
Autistic behavior		0000729
Broad distal phalanx of finger	Broad outermost finger bone	0009836
Chronic constipation	Infrequent bowel movements	0012450
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
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
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Frontal bossing		0002007
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypospadias		0000047
Inappropriate laughter		0000748
Incomprehensible speech		0002546
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Long palpebral fissure	Broad opening between the eyelids Long opening between the eyelids Wide opening between the eyelids [ more ]	0000637
Long toe	Increased length of toes Long toes [ more ]	0010511
Low frustration tolerance		0000744
Lower limb spasticity		0002061
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Narrow palpebral fissure	Small opening between the eyelids	0045025
Obsessive-compulsive trait	Obsessive-compulsive traits	0008770
Optic nerve hypoplasia		0000609
Periorbital fullness	Puffiness around eye	0000629
Self-mutilation	Deliberate self-harm Self mutilation [ more ]	0000742
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Tics	Tic disorder	0100033
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Widely-spaced maxillary central incisors	Gap between upper front teeth Wide gap between upper central incisors Widely spaced upper incisors [ more ]	0001566
1%-4% of people have these symptoms
Language impairment		0002463
Sparse hair		0008070
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Blepharophimosis	Narrow opening between the eyelids	0000581
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Neonatal hypotonia	Low muscle tone, in neonatal onset	0001319
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

There is a research study for this condition called Clinical Investigations of Patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). Visit the link to learn more about the study and contact the researchers.

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

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.
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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. J Med Genet. August, 2013; 50(8):507-14. http://www.ncbi.nlm.nih.gov/pubmed/23644463. Accessed 10/28/2015.

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