Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. GATAD2B-associated neurodevelopmental disorder
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Statistics
    • Find a Specialist
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

GATAD2B-associated neurodevelopmental disorder


Title


How can we make GARD better? We want to hear from you.
Provide Feedback

Other Names:
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Categories:
Congenital and Genetic Diseases

Summary Summary


Listen
GATAD2B-associated neurodevelopmental disorder (GAND) affects the way the brain develops. Symptoms of GAND include moderate to severe intellectual disability, poor speech development, and large head size. Other signs and symptoms may include low muscle tone in children (childhood hypotonia), feeding problems, heart problems and shared facial features. Because so few cases have been described in the medical literature, it is difficult to know how this condition changes over time. GAND is caused by a GATAD2B gene that is absent or not working correctly. It usually occurs in a family for the first time due to a new genetic change (de novo) and may be inherited in an autosomal dominant pattern. GAND is diagnosed based on the symptoms, a clinical exam and genetic testing. Treatment is focused on managing the symptoms.[1][2][3]
Last updated: 8/27/2020

Symptoms Symptoms


Listen
The following list includes the most common signs and symptoms in people with GATAD2B-associated neurodevelopmental disorder (GAND). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:[1][2]
  • Intellectual disability
  • Developmental delay
  • Speech disorder (apraxia)
  • Low muscle tone in childhood (hypotonia)
  • Large head size (macrocephaly)
  • Crossed eyes (strabismus)
  • Feeding difficulties
Less common symptoms of GAND may include heart problems and seizures. People with GAND tend to share similar facial features such as a broad forehead and wide-set eyes.

Many of the features of GAND are present at birth. It is not well understood how GAND changes over the course of an individual's lifetime.
Last updated: 8/27/2020

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.

Showing of 55 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormality of the cerebral white matter 0002500
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
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
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
Showing of 55 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


Listen
GATA2DB-associated neurodevelopmental disorder is caused by a GATAD2B gene that is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[4]
Last updated: 8/27/2020

Inheritance Inheritance


Listen
GATAD2B-associated neurodevelopmental disorder (GAND) can be inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family. This is often the case for GAND.[1]

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.

In rare cases, it may be inherited from a parent who has a genetic variant in the GATAD2B gene in some of his or her cells but not all of them (mosaic). A parent who is mosaic for a genetic variant in the GATAD2B gene usually does not have any symptoms of GAND.[3]



Last updated: 8/27/2020

Diagnosis Diagnosis


Listen
A diagnosis of GATAD2B-associated neurodevelopmental disorder is made based on the symptoms and a clinical exam and is confirmed by genetic testing.[1][2]
Last updated: 8/27/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment


Listen
Treatment for GATAD2B-associated neurodevelopmental disorder is focused on managing the symptoms.

Specialists involved in the care of someone with GATAD2B-associated neurodevelopmental disorder may include:[1][5]
  • Developmental specialist
  • Neurologist
  • Cardiologist
  • Ophthalmologist
  • Speech language pathologist
Last updated: 8/27/2020

Statistics Statistics


Listen
The exact number of people with GATAD2B-associated neurodevelopmental disorder is unknown. The information on this condition is based on individual case reports in the medical literature. 
Last updated: 8/27/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


Listen

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.

Learn More Learn More


Listen

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


Listen

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


  1. Shieh C, Jones N, Vanle B, et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020. 2020; 22(5):878-888. https://pubmed.ncbi.nlm.nih.gov/31949314.
  2. Vera G, Sorlin A, Delplancq G, et al. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) [published online ahead of print, 2020 Jul 17]. Eur J Med Genet. 2020; 63(10):104004. https://pubmed.ncbi.nlm.nih.gov/32688057.
  3. Kaur P, Mishra S, Rajesh SM, Girisha KM, Shukla A. GATAD2B-related intellectual disability due to parental mosaicism and review of literature. Clin Dysmorphol. 2019; 28(4):190-194. https://pubmed.ncbi.nlm.nih.gov/31205050.
  4. Willemsen MH, Nijhof B, Fenckova M, et al. 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.
  5. Pierson TM, Otero MG, Grand K, et al. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet. 2019;181(4):548-556. 2019; 181(4):548-556. https://pubmed.ncbi.nlm.nih.gov/31737996.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen