DYRK1A Mutation (Intellectual Developmental Disorder, Autosomal Dominant 7; MRD7)

DYRK1A Mutation (Mental Retardation, Autosomal Dominant 7_ MRD7) OMIM #614104
* This composite image of DYRK1A Mutation (Mental Retardation, Autosomal Dominant 7; MRD7) syndrome was created to help geneticists get a better analysis

What is DYRK1A Mutation (Intellectual Developmental Disorder, Autosomal Dominant 7; MRD7)?

DYRK1A Mutation is a rare genetic condition with symptoms that affect multiple parts of the body.

Severe intellectual disability is a defining symptom of the syndrome. It also presents with unique facial features.

This syndrome is also known as:
Intellectual disability, DYRK1A mutation; Intellectual disability, DYRK1A mutations; MRD7

What gene change causes DYRK1A Mutation (Intellectual Developmental Disorder, Autosomal Dominant 7; MRD7)?

Mutations in the DYRK1A gene are responsible for the syndrome. The syndrome is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of DYRK1A Mutation (Intellectual Developmental Disorder, Autosomal Dominant 7; MRD7)?

The main symptoms of the syndrome are severe intellectual disability and a lack of speech development.

Anxiety and autistic-like behaviors are also common with the syndrome.

Facial features of the condition include a small head, deep-set eyes, large ears, and a pointed nasal tip.

Other symptoms of the syndrome include seizures, gait issues, and feeding difficulties in infancy.

Possible clinical traits/features:
Intellectual disability, Narrow forehead, Cerebral cortical atrophy, Autism, Microcephaly, Severe global developmental delay, Deeply set eye, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive in infancy, Autosomal dominant inheritance, Hallux valgus.

How is it diagnosed?

To find out if someone has a diagnosis of DYRK1A Mutation (Intellectual Developmental Disorder, Autosomal Dominant 7; MRD7), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Share this syndrome

DYRK1A Mutation (Mental Retardation, Autosomal Dominant 7_ MRD7) OMIM #614104
* This composite image of DYRK1A Mutation (Mental Retardation, Autosomal Dominant 7; MRD7) syndrome was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more