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Disease Profile
X-linked intellectual disability, Najm type
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.
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Age of onset
Infancy
ICD-10
Q04.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
X-linked intellectual disability microcephaly pontocerebellar hypoplasia; MICPCH; Intellectual disability and microcephaly with pontine and cerebellar hypoplasia ;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 163937
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
IQ between 34 and 49
|
0002342 | |
Severe global |
0011344 | |
30%-79% of people have these symptoms | ||
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long philtrum | 0000343 | |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
5%-29% of people have these symptoms | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Macrogyria | 0007227 | |
Optic atrophy | 0000648 | |
Optic disc pallor | 0000543 | |
Optic nerve hypoplasia | 0000609 | |
Rigidity |
Muscle rigidity
|
0002063 |
0002650 | ||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormally large globe |
Increased size of eyes
Large eyes
[ more ] |
0001090 |
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 |
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
Dilated fourth ventricle | 0002198 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global developmental delay | 0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Oval face |
Oval facial shape
|
0000300 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Progressive microcephaly |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Decreased body height
Small stature
[ more ] |
0004322 | |
0001423 |
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) 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.
- 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 intellectual disability, Najm type. Click on the link to view a sample search on this topic.