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Disease Profile

Bain type of X-linked syndromic intellectual disability

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

HNRNPH2 deficiency

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]

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.

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

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

    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. 

      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/.