X-linked non-specific intellectual disability

Title

Other Names:

X-linked non-syndromic intellectual disability

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

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
80%-99% of people have these symptoms
Intellectual disability, moderate	IQ between 34 and 49	0002342
30%-79% of people have these symptoms
Autistic behavior		0000729
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Global developmental delay		0001263
5%-29% of people have these symptoms
2-3 toe syndactyly	Webbed 2nd and 3rd toes	0004691
Absence seizure	Brief seizures with staring spells	0002121
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Babinski sign		0003487
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
Clinodactyly of the 2nd toe		0005824
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
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
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Drooling	Dribbling	0002307
Facial palsy	Bell's palsy	0010628
Generalized tonic-clonic seizures	Grand mal seizures	0002069
Intellectual disability, profound	IQ less than 20	0002187
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Long palpebral fissure	Broad opening between the eyelids Long opening between the eyelids Wide opening between the eyelids [ more ]	0000637
Long philtrum		0000343
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Meckel diverticulum		0002245
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Mild neurosensory hearing impairment		0008587
Moderate sensorineural hearing impairment		0008504
Obesity	Having too much body fat	0001513
Periorbital fullness	Puffiness around eye	0000629
Pes planus	Flat feet Flat foot [ more ]	0001763
Poor speech		0002465
Pyloric stenosis		0002021
Shortening of all distal phalanges of the fingers	Shortening of all outermost bones of the fingers	0006118
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Thin upper lip vermilion	Thin upper lip	0000219
Urinary incontinence	Loss of bladder control	0000020
Widened subarachnoid space		0012704

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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.

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

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) lists the subtypes and associated genes for X-linked non-specific intellectual disability in a table called Phenotypic Series. Each entry in OMIM includes 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.
PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked non-specific intellectual disability. Click on the link to view a sample search on this topic.

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