Bain type of X-linked syndromic intellectual disability

Title

Other Names:

HNRNPH2 deficiency

Summary Summary

Bain type of X-linked syndromic intellectual disability is a genetic syndrome characterized by developmental delay, intellectual disability, autism, hypotonia, and seizures. Other symptoms may include loss of acquired skills (developmental regression), behavioral problems, stiffness or tightness of the muscles (spasticity), problems coordinating movements, small head, unusual facial features, and short stature. Some individuals also develop mental disorders such as anxiety, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and stereotyped behaviors. The syndrome has only been identified in females. It is caused by mutations in the HNRNPH2 gene which is located on the X chromosome. Treatment is symptomatic and supportive.^[1]

Last updated: 12/29/2017

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
5%-29% of people have these symptoms
Abnormal cerebellum morphology	Abnormality of the cerebellum Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly [ more ]	0001317
Postnatal microcephaly		0005484
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
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Anxiety	Excessive, persistent worry and fear	0000739
Ataxia		0001251
Autistic behavior		0000729
Constipation		0002019
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyperlordosis	Prominent swayback	0003307
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypertonia		0001276
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Obsessive-compulsive behavior	Obsessive compulsive behavior	0000722
Pectus carinatum	Pigeon chest	0000768
Pes planus	Flat feet Flat foot [ more ]	0001763
Scoliosis		0002650
Seizure		0001250
Short palpebral fissure	Short opening between the eyelids	0012745
Short philtrum		0000322
Short stature	Decreased body height Small stature [ more ]	0004322
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
Underdeveloped nasal alae	Underdeveloped tissue around nostril	0000430
Wide mouth	Broad mouth Large mouth [ more ]	0000154
X-linked dominant inheritance		0001423

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Last updated: 2/1/2021

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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.

Organizations Supporting this Disease

HNRNPH2-related Disorders
Harkness Pavilion, 5th Floor
180 Fort Washington Avenue
New York, NY 10032
Telephone: 646-426-3876
E-mail: jb3634@cumc.columbia.edu
Website: http://hnrnph2.com/
The Yellow Brick Road Project
280 Ronbru Road
New Rochelle, NY 10804
E-mail: ProjectYBR@gmail.com
Website: https://yellowbrickroadproject.org/

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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

Bain JM, Cho MT, Telegrafi A, et al. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. American Journal of Human Genetics. 2016; 99(3):728-734. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011042/.

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