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Disease Profile

DYRK1A-Related Intellectual Disability Syndrome

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)

DYRK1A Syndrome; Autosomal dominant intellectual disability-7

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
Abnormal facial shape
Unusual facial appearance
0001999
Acromesomelia
0003086
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
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Global developmental delay
0001263
30%-79% of people have these symptoms
Anxiety
Excessive, persistent worry and fear
0000739
Autistic behavior
0000729
Congenital microcephaly
0011451
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Febrile seizure (within the age range of 3 months to 6 years)
Fever induced seizures
0002373
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Poor speech
0002465
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior

[ more ]

0000733
Ventriculomegaly
0002119
5%-29% of people have these symptoms
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Anterior pituitary hypoplasia
Underdeveloped pituitary gland
0010627
Aortic regurgitation
0001659
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Corneal opacity
0007957
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Exotropia
Outward facing eye ball
0000577
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Hyperactivity
More active than typical
0000752
Hypermetropia
Farsightedness
Long-sightedness

[ more ]

0000540
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem

[ more ]

0002365
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Macrotia
Large ears
0000400
Multiple joint contractures
0002828
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Narrow forehead
Decreased width of the forehead
0000341
Narrow nasal tip
Narrow tip of nose
Nasal tip, narrow
Nasal tip, pinched
Pinched nasal tip
Pinched tip of nose
Thin nasal tip
Thin tip of nose

[ more ]

0011832
Optic disc pallor
0000543
Polydactyly
More than five fingers or toes on hands or feet
0010442
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
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Abnormality of the cervical spine
Abnormal cervical spine
0003319
Aortic valve stenosis
Narrowing of aortic valve
0001650
Ataxia
0001251
Autism
0000717
Birth length less than 3rd percentile
0003561
Breast hypoplasia
Underdeveloped breasts
0003187
Bulbous nose
0000414
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Eczema

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

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 DYRK1A-Related Intellectual Disability Syndrome. Click on the link to view a sample search on this topic.

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