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  3. Bain type of X-linked syndromic intellectual disability
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Bain type of X-linked syndromic intellectual disability


Title




Other Names:
HNRNPH2 deficiency

Summary Summary


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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


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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 36 |
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
Showing of 36 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Organizations Organizations


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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/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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. 

GARD Answers GARD Answers


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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. 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/.
Do you know of a review article? We want to hear from you.
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