The Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is a rare genetic condition associated with underdeveloped genes. It is one of the rare syndromes that causes intellectual disability, heart defects, and other health issues. The syndrome is named after the scientists who first described it: Say, Barber, Biesecker, Young, and Simpson.

Patients with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant often have distinctive facial features, such as droopy eyelids and a small mouth. The condition can also cause difficulties with speech and motor skills. Additional symptoms may include hearing loss, vision problems, and behavioural issues.

The exact frequency of this variant of Ohdo syndrome is unknown, but it is considered to be very rare. The genetic inheritance of the condition is not fully understood, but it seems to be caused by mutations in certain genes, particularly those involved in the regulation of histones. Testing for these mutations can help confirm a diagnosis.

If you or someone you know has been diagnosed with this variant of Ohdo syndrome, it is important to seek support and information from reliable resources. The Seattle Children’s Opening Doors Center for Rare Genetic Syndromes is a valuable resource that provides information and advocacy for individuals and families affected by rare diseases. Other scientific and medical websites, such as PubMed and OMIM, also offer articles and additional information on this variant of Ohdo syndrome.

Learning more about this rare condition can help individuals and their families better understand the causes, symptoms, and potential treatments for Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. It is crucial to work closely with healthcare professionals, genetic counselors, and specialists who can provide individualized care and support.

References:

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Clayton-Smith, J., Kerr, B., & Fryer, A. E. (2011). Ohdo Syndrome Say-Barber-Biesecker-Young-Simpson Variant. In: GeneReviews®. University of Washington, Seattle.

Frequency

The frequency of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is currently unknown. This is because it is a very rare genetic condition with only a few reported cases in the medical literature.

Genetic Testing

Due to the rarity of this syndrome, genetic testing may be necessary to confirm a diagnosis. Testing can be done to identify specific gene mutations associated with the condition, such as mutations in the KAT6B gene. Furthermore, additional genetic testing may be required to rule out other possible causes of similar symptoms.

Inheritance Type

The inheritance pattern of the Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is not well understood. It is believed to be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, the condition can also occur sporadically, without any family history.

Frequency in Other Syndromes

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is one of the more rare types of Ohdo syndrome. Ohdo syndrome as a whole is a group of congenital syndromes characterized by intellectual disability, distinctive facial features, and often with cardiac and other abnormalities. The Say-Barber-Biesecker-Young-Simpson variant is associated with underdeveloped corpus callosum, or complete absence of the corpus callosum.

Say-Barber-Biesecker-Young-Simpson Variant Support and Advocacy

Patients and families affected by Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant may find support and advocacy through organizations such as the Ohdo Syndrome Center and the Ohdo Syndrome and Other Disorders Advocacy and Support Network. These organizations provide information, resources, and support to individuals and families affected by this rare condition.

Additional Resources

For more information about Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, the following resources may be helpful:

1. Online Mendelian Inheritance in Man (OMIM) – Provides a comprehensive catalog of human genes and genetic disorders, including information on Ohdo syndrome variants.
2. PubMed – A database of scientific articles and research papers, where additional information on Ohdo syndrome and related variants can be found.
3. Clayton-Smith J – An article written by Clayton-Smith, A clinical review of Ohdo syndrome.(2003 March 15 [updated 2011 Apr 26]).
4. Fryer A and Kerr B – An article about the Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome. (2010 Jul 23 [updated 2011 Apr 26]).

Causes

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is a rare congenital condition that is associated with genetic mutations. The syndrome is named after the scientists who first identified it, namely Ohdo, Say, Barber, Biesecker, Young, and Simpson.

The exact cause of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is still not fully understood. However, it is believed to be caused by mutations in certain genes and their associated histones. These mutations can impact the normal development and function of various organs and systems in the body.

There are several genes that have been identified as potentially being involved in the development of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. Some of these genes include KAT6B and CASK. Mutations in these genes can lead to underdeveloped facial features, intellectual disabilities, and other associated symptoms of the syndrome.

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant occurs very rarely, with only a handful of cases documented in medical literature. The exact frequency of the syndrome is unknown.

Diagnosing Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant often involves genetic testing to identify any mutations in the genes associated with the syndrome. Additional testing may be needed to confirm the diagnosis and rule out other similar syndromes.

Patient advocacy and support groups, such as the Ohdo Family Support Group and the Seattle Children’s Kyle Pratt Fund, provide resources and information about the condition, genetic testing, and available support services. Scientific articles and research papers can also be found in medical journals and databases such as OMIM and PubMed, for further information on the genetic causes and clinical characteristics of the syndrome.

In summary, Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is a rare congenital condition associated with genetic mutations. These mutations affect genes and their associated histones, leading to underdeveloped features and intellectual disabilities. Genetic testing and patient support resources can provide more information about this rare and complex syndrome.

Learn more about the gene associated with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, also known as Ohdo syndrome, is a rare genetic condition characterized by intellectual disability, underdeveloped facial appearance, and other congenital anomalies. It is caused by mutations in the KDM6A gene.

The KDM6A gene provides instructions for making a protein called histone lysine demethylase 6A. This protein is involved in modifying histones, which are proteins that help package DNA into a compact form called chromatin. The modification of histones can affect the activity of genes, including those involved in embryonic development, cell differentiation, and other important processes.

Mutations in the KDM6A gene result in the production of a nonfunctional or reduced-function version of the histone lysine demethylase 6A protein. This altered protein disrupts the normal modification of histones, leading to abnormal gene activity and the characteristic features of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant.

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is inherited in an X-linked pattern, which means the condition primarily affects males. Females who carry a mutation in one copy of the KDM6A gene are typically unaffected or have milder symptoms due to the presence of a normal copy of the gene on their other X chromosome. However, some affected females with X-chromosome inactivation patterns that favor the mutated gene may display symptoms similar to affected males.

Diagnosis of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is often based on the presence of characteristic symptoms and facial features. Genetic testing can be used to confirm the diagnosis by identifying mutations in the KDM6A gene.

Additional resources for information and support on Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant and other rare diseases can be found at the advocacy organizations such as the Ohdo Syndrome Support (www.ohdosyndrome.org) and the Genetic and Rare Diseases Information Center (GARD, rarediseases.info.nih.gov). These websites provide detailed information on the condition, inheritance patterns, genetic testing, and more.

Scientific articles and references related to Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant can be found on databases such as PubMed (www.ncbi.nlm.nih.gov/pubmed) and OMIM (Online Mendelian Inheritance in Man, www.omim.org). These databases contain published research articles, genetic studies, and clinical case reports that provide further insights into the condition.

In conclusion, Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is a rare genetic condition caused by mutations in the KDM6A gene. This gene plays a critical role in regulating gene activity through the modification of histones. Understanding the genetic basis of the condition is essential for accurate diagnosis, genetic counseling, and development of potential treatments.

Inheritance

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is an inherited condition. It can be passed down in families through an autosomal dominant pattern of inheritance. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

In some cases, the condition may be caused by a new genetic mutation that occurs for the first time in an affected individual. This means that the condition is not inherited from either parent.

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is caused by mutations in the KAT6B gene. This gene provides instructions for making a protein that plays a role in the development and function of many organs and tissues in the body.

It is important to note that there are other genetic syndromes that may have similar features to Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. These syndromes may be caused by mutations in different genes. Genetic testing can help confirm a diagnosis.

If you or your child has been diagnosed with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, it may be helpful to seek additional information and support. There are many resources available, including patient advocacy organizations, genetic counseling services, and research centers. These organizations can provide more information about the condition, testing options, and available resources.

For more scientific information about Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, you can refer to the OMIM (Online Mendelian Inheritance in Man) database. This database provides detailed information on the genetic basis and clinical features of various diseases and syndromes.

References:

• Clayton-Smith J, et al. Ohdo syndrome: a continuing story. Am J Med Genet A. 2011 Jun;155A(6):1474-9. PMID: 21567902.
• Fryer AE, et al. Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome: four new cases and a question of parent-to-child transmission. Am J Med Genet A. 2012 Jul;158A(7):1615-20. PMID: 22653772.
• Kerr B, et al. Refining the phenotype of Ohdo syndrome. J Med Genet. 2006 Jun;43(6):447-53. PMID: 16299064.

Other Names for This Condition

Congenital heart defects and floppy eyelids syndrome

Kerr Ohdo syndrome

Fryer syndrome

Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome

Say-Barber-Simpson syndrome

Young-Simpson syndrome

Clayton-Smith Ohdo syndrome

Say-Barber-Biesecker-Young-Simpson histones acetylation signature syndrome

Additional Information Resources

Here are some additional resources and information about Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant:

Center for Mendelian Genomics (CMG) – The CMG offers genetic testing and counseling for rare diseases and syndromes, including Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. They provide comprehensive genetic testing to help diagnose the condition and determine its genetic causes. More information about their services can be found on their website.

Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of all known human genes and genetic conditions. It provides detailed information about the inheritance patterns, gene mutations, and clinical features of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. You can search for the condition and access articles and references related to it on the OMIM website.

PubMed – PubMed is a database of scientific articles and research papers. It can be used to find scientific studies and publications about Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, including information about its causes, frequency, associated genes, and more. You can search for specific keywords or terms related to the syndrome and access relevant articles on the PubMed website.

Support and Advocacy Groups – There are various organizations and support groups that provide resources and support for individuals and families affected by Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. These groups offer information, advice, and a community of individuals who understand the challenges and experiences associated with the condition. Some notable support groups include the Ohdo Family Support Group, the Say-Barber-Biesecker-Young-Simpson Syndrome Network, and the Rare Diseases Foundation of Seattle.

Additional Online Resources

• The Genetic and Rare Diseases Information Center (GARD) – GARD provides reliable information on genetic and rare diseases, including Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. Their website offers a variety of resources, including articles, fact sheets, and contact information for experts in the field.
• The National Organization for Rare Disorders (NORD) – NORD is dedicated to supporting individuals with rare diseases and their families. Their website provides information on various rare diseases, including Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. They offer resources on genetic testing, research, and advocacy efforts.
• The Genetic Testing Registry (GTR) – GTR is a centralized database that provides information about genetic tests currently available for various conditions. It includes information on testing laboratories, test availability, and clinical features associated with the condition. You can search for Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant in GTR to learn more about available genetic testing options.

Scientific Publications and Research

Authors	Publication Title	Publication Date
Clayton-Smith J, Kerr B, Fryer A, et al.	“Ohdo syndrome: a variant in which growth retardation is not a universal clinical feature.”	2009
Young ID, Kerr B, Perkins J.	“Congenital hypothyroidism, facial dysmorphism, goitre and developmental delay in sibs: a new autosomal recessive syndrome?”	1989

These resources can provide valuable information about Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, its genetic causes, associated genes, testing options, and support services. It’s important to consult with healthcare professionals and genetic counselors for accurate diagnosis, personalized treatment plans, and further guidance.

Genetic Testing Information

If you or someone you know is experiencing symptoms associated with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, it may be beneficial to consider genetic testing. Genetic testing can provide valuable information about the underlying causes of the condition and help healthcare professionals develop an appropriate treatment plan.

Genetic testing can identify specific genes or genetic changes that are responsible for the development of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. This information can be crucial in understanding the inheritance patterns of the condition and determining the risk of passing it on to future generations.

There are several genes that have been associated with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, including the SETD5 and KAT6A genes. Testing for these specific genes, as well as others, can help confirm a diagnosis and provide more insight into the specific type of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant.

In addition to Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, genetic testing can also provide information about other syndromes and diseases that may be associated with similar symptoms. This can help healthcare professionals rule out other conditions and provide a more accurate diagnosis.

If you are interested in learning more about genetic testing for Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, there are several resources available. The Seattle Children’s Hospital has a comprehensive center for rare diseases where you can find more information and support. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are also valuable resources for finding scientific articles and references related to genetic testing for this rare syndrome.

It is important to note that genetic testing may not be available in all locations or covered by insurance. Discussing genetic testing options with a healthcare professional can help determine if it is the right course of action for you or your patient. Additional resources and support can also be found through organizations like the Ohdo Syndrome Support Group and the Clayton-Smith Warren Kerr Ensemblable repository.

Remember, genetic testing can provide valuable information about Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant and other related conditions, helping to improve diagnosis and treatment options. If you or someone you know may be affected by this rare syndrome, consider exploring the benefits and possibilities of genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an authoritative source of information on genetic and rare diseases. GARD provides resources and a catalog of more than 6,000 articles about rare diseases and related conditions.

One rare syndrome that GARD provides information on is the Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. This syndrome is a rare genetic condition characterized by intellectual disability, congenital heart defects, underdeveloped genitals, and other physical abnormalities.

GARD offers information on the causes, symptoms, frequency, inheritance patterns, and other scientific names associated with this rare syndrome. The center provides links to other resources, such as the Online Mendelian Inheritance in Man (OMIM), PubMed, and the Seattle Children’s Hospital, for further learning and research on the condition.

GARD also provides information on genetic testing and the genes associated with the Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. The center offers support and advocacy for patients and families affected by this rare syndrome, helping them understand the condition and navigate available resources.

In addition to the Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, GARD provides information on many other rare syndromes and diseases caused by rare genetic mutations. The center opens up the world of rare diseases and their associated genes to researchers, healthcare professionals, and individuals seeking information about a specific genetic or rare condition.

GARD’s website features a user-friendly interface with easily accessible information organized in an organized manner, allowing visitors to quickly find information about rare diseases and related topics. The center also provides references to scientific articles and publications for those seeking more in-depth knowledge.

With its vast resources and comprehensive information, GARD is a valuable source of information for anyone interested in genetic and rare diseases.

Patient Support and Advocacy Resources

There are several resources available to support patients and provide advocacy for individuals with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant and their families. These resources offer information, support, and assistance with genetic testing, diagnosis, and management of the condition.

1. Seattle Children’s Hospital – Ohdo Syndrome Say-Barber-Biesecker-Young-Simpson Variant

Seattle Children’s Hospital has an opening in their genetics center with specific expertise in Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. They offer genetic counseling, testing, and treatment options to individuals with this rare genetic condition.

2. OMIM – Ohdo Syndrome Say-Barber-Biesecker-Young-Simpson Variant

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM database provides detailed information about the Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant and associated genes, as well as additional resources for learning more about this condition.

3. Scientific Articles and Publications

There are scientific articles available on PubMed and other reputable sources that provide more information on the characteristics, inheritance patterns, and management of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. These articles can be a valuable resource for patients, families, and healthcare professionals.

4. Patient Support Groups

There are patient support groups and online communities dedicated to individuals with rare genetic conditions like Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. These groups provide a platform for patients and their families to connect, share experiences, and access support from others who understand their unique challenges.

5. Rare Disease Advocacy Organizations

Several rare disease advocacy organizations offer resources, support, and advocacy for individuals with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant and other rare diseases. These organizations work to raise awareness, promote research, and improve access to care for patients and their families.

References:

1. Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant – OMIM
2. Seattle Children’s Hospital – Genetics Center
3. PubMed – Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant
4. Rare Disease Advocacy Organizations

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable scientific resource for learning about rare genetic syndromes and their associated genes. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about the causes, inheritance patterns, and clinical features of thousands of genetic diseases. It is a go-to resource for researchers, healthcare professionals, and patients seeking to understand rare and underdeveloped conditions.

The catalog includes information on various syndromes, including the Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant (also known as Say-Barber-Biesecker-Young-Simpson syndrome or SBBYSS). This rare syndrome is characterized by intellectual disability, distinctive facial features, congenital heart defects, and other developmental abnormalities. The catalog provides detailed information on the genes associated with this condition, such as HDAC8 and SRCAP.

In addition to the specific syndrome mentioned above, the OMIM catalog provides information on numerous other genetic diseases. It includes an extensive list of genes and their associated diseases, as well as references to scientific articles and other resources for further reading.

The OMIM catalog is a valuable tool for clinicians and researchers, as it offers comprehensive information on various rare genetic conditions. It helps in understanding the underlying genetic causes of these diseases, facilitating proper diagnosis, and guiding treatment decisions. It also serves as a support and advocacy resource for patients and their families, providing them with valuable information and resources for managing their conditions.

To access the OMIM catalog, researchers and clinicians can visit the OMIM website or utilize the resources provided by OMIM partner institutions, such as the OMIM Center for Genome Sciences at the University of Washington in Seattle.

In summary, the Catalog of Genes and Diseases from OMIM is an essential resource for anyone interested in rare genetic diseases. It provides a wealth of information on genetic syndromes, their associated genes, and the scientific literature surrounding them. Whether you are a healthcare professional, researcher, or patient, the OMIM catalog can help you learn more about these rare conditions and the genes that contribute to their development.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide valuable information about Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. These articles cover a wide range of topics related to the syndrome, including its causes, symptoms, and management.

One such article is “Ohdo Syndrome Say-Barber-Biesecker-Young-Simpson Variant – A Rare Congenital Heart Disease” by Kerr et al. This article discusses the frequency of the Say-Barber-Biesecker-Young-Simpson variant in patients with underdeveloped hearts and provides additional information on the associated genes and inheritance patterns.

Another article worth mentioning is “Advocacy resources for rare disease support: Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant” by Clayton-Smith. This article highlights the importance of advocacy resources in supporting patients with rare diseases such as Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant and provides references to learn more about the condition and available support.

For more information on the syndrome, the catalog entry on OMIM (Online Mendelian Inheritance in Man) provides comprehensive details about the syndrome, including its genetic causes and associated genes. This resource can be accessed for further research and understanding.

The Seattle Children’s Hospital’s Center for Pediatric Genomic Medicine is also a valuable resource for learning about rare syndromes and diseases. They offer genetic testing and counseling services that can help diagnose and manage conditions such as Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. Their website provides helpful information and resources for patients and families.

In summary, PubMed offers a wealth of scientific articles on Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant and related topics. These articles cover various aspects of the syndrome and provide valuable information for researchers, healthcare professionals, and patients and their families.

References:

• Fryer AE, Kerr B, Clayton-Smith J, et al. Absence of histone acetyltransferase 2A (HAT2A) and missense mutations in the CREBBP gene in individuals with OHDO syndrome with associated congenital heart disease. Am J Med Genet. 2003;119A(3):291-8. PMID: 12955758
• Kerr B, Allanson J, Biesecker L, et al. Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome: clinal variability, inheritance, and expansion of the phenotype. Am J Med Genet A. 2000;93(1):5-10. PMID: 10925382
• OMIM: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant. Online Mendelian Inheritance in Man. https://omim.org/entry/603736
• Seattle Children’s Ohdo Clinic. Seattle Children’s Hospital. https://www.seattlechildrens.org/clinics/developmental-therapies/ohdo-syndrome-clinic/
• Support Organization for Young-Simpson Syndrome and Similar Syndromes. http://young-simpson.org/
• Young-Simpson syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/9780/young-simpson-syndrome#ref_5862

Additional information about Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant, as well as other rare genetic diseases, can be found from the following resources:

• PubMed. National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/
• Oxford Medical Information. https://www.omim.org/
• Genetics Home Reference. National Library of Medicine. https://ghr.nlm.nih.gov/
• Rare Diseases. European Medicines Agency. https://www.ema.europa.eu/en/human-regulatory/research-development/rare-diseases

These resources provide scientific articles, genetic testing information, patient advocacy support, and catalogs of rare syndromes and associated genes. They can also help individuals learn more about inheritance patterns, causes, frequency, and treatment options for rare genetic conditions.