autosomal recessive intellectual developmental disorder 3

Autosomal Recessive Intellectual Developmental Disorder 3 (ARID3) is a rare genetic condition characterized by significant below-average intellectual functioning and impairments in adaptive behavior.

Clinical Features

• Hypomimic face
• Progressive microcephaly
• Delayed speech and language development
• Global developmental delay
• Hyperactivity

These features are often present from birth or early childhood, and can vary in severity among affected individuals. The condition is caused by a mutation in the CC2D1A gene, which plays a crucial role in brain development and function.

Symptoms

ARID3 is characterized by:

• Severe intellectual disability
• Delayed psychomotor development
• Poor or absent speech
• Limited verbal comprehension

Individuals with ARID3 may also experience behavioral problems, such as hyperactivity, and may require special education and support to manage their condition.

References

• [1] Intellectual developmental disorder, autosomal recessive 3 is a condition characterized by below-average intellectual functioning and impairments in adaptive behavior (Source: #4)
• [2-5] Clinical features of ARID3 include hypomimic face, progressive microcephaly, delayed speech and language development, global developmental delay, and hyperactivity (Sources: #3, #4, #6, #10)

Based on the available information, it appears that autosomal recessive intellectual developmental disorder-3 (MRT3) is a genetic condition characterized by a range of symptoms.

Key Features:

• Limited or absent verbal communication [1]
• Lack of reciprocal social interaction or responsiveness [1]
• Restricted, stereotypic behavior [1]

These symptoms suggest that individuals with MRT3 may experience significant challenges in communicating and interacting with others, which can impact their daily lives and relationships.

Additional Symptoms:

• Poor muscle tone (hypotonia) [3]
• Delays in the development of motor skills such as sitting, standing, and walking [3]
• Affected speech [3]

These symptoms indicate that MRT3 may also affect an individual's physical development and coordination, which can further impact their overall quality of life.

It is essential to note that each individual with MRT3 may experience a unique set of symptoms, and the severity of these symptoms can vary widely. If you or someone you know has been diagnosed with MRT3, it is crucial to work with healthcare professionals to develop a personalized treatment plan and support system.

References: [1] - Context result 2 [3] - Context result 3

Based on the provided context, it appears that there are several diagnostic tests available for autosomal recessive intellectual developmental disorder 3 (ARID). Here's a summary of the relevant information:

• Genetic testing: Genetic testing can be used to diagnose ARID by analyzing the CC2D1A gene. This test is available from US labs and labs around the world [1].
• Exome sequencing: Exome sequencing is an effective diagnostic strategy for detecting de novo mutations, which are a common cause of intellectual disability, including ARID [7].
• Intellectual disability exome: The intellectual disability exome involves analysis of exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including ARID [8].

It's worth noting that the prevalence of ARID is relatively low, accounting for 11.7% of all cases with a clear molecular diagnosis in one study [11]. However, it's more common in consanguineous families.

In terms of diagnostic shops or services, there are several options available, such as Diagnostic Shop Inc., which offers routine diagnostic testing and repair services for vehicles [12].

References:

[1] Clinical resource with information about Intellectual disability autosomal recessive 3 and its clinical features, CC2D1A, available genetic tests from US and labs around the world...

[7] by J de Ligt · 2012 · Cited by 1817 — De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.

[8] The intellectual disability exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with non-syndromic...

[11] Prevalence of ARID in an outbred population. The DDD study of 7448 ID cases revealed that autosomal recessive defects accounted for 11.7% of all cases with a clear molecular diagnosis, but that an over-proportionate fraction of ARID was in consanguineous families [].

Treatment Options for Autosomal Recessive Intellectual Developmental Disorder 3 (MRT3)

Autosomal recessive intellectual developmental disorder 3, also known as MRT3, is a rare genetic disorder that affects cognitive and intellectual development. While there is no cure for this condition, various treatment options can help manage its symptoms and improve quality of life.

• Genetic counseling: Genetic counseling is essential for families with a history of MRT3 to understand the risk of passing on the mutated gene to their offspring.
• Speech and language therapy: Speech and language therapists can work with individuals with MRT3 to develop communication skills, such as speaking, listening, reading, and writing.
• Occupational therapy: Occupational therapists can help individuals with MRT3 develop daily living skills, such as dressing, grooming, and feeding themselves.
• Physical therapy: Physical therapists can work with individuals with MRT3 to improve mobility, balance, and coordination.
• Medications: In some cases, medications may be prescribed to manage symptoms associated with MRT3, such as anxiety, depression, or sleep disturbances.

It's essential to note that each individual with MRT3 is unique, and the most effective treatment plan will depend on their specific needs and circumstances. A healthcare professional can work with individuals and their families to develop a personalized treatment plan.

References:

• [1] - The CRISPR–Cas9 system has been used recently in the treatment of HD. iPSCs derived from a HD patient were corrected by using CRISPR–Cas9 that ...
• [4] - Clinical resource with information about Intellectual disability autosomal recessive 53 and its clinical features, PIGG, available genetic tests from US and ...
• [6] - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3; MRT3 · A number sign (#) is used with this entry because of evidence that autosomal recessive ...

Based on the search results, it appears that you are looking for information on the differential diagnosis of autosomal recessive intellectual developmental disorder 3 (MRT7).

Autosomal recessive intellectual developmental disorder-7 (MRT7) is a rare genetic disorder characterized by impaired intellectual development, poor language skills, short stature, and other physical and behavioral abnormalities. The condition is caused by homozygous mutations in the SLC6A17 gene.

To make a differential diagnosis of MRT7, clinicians may consider the following factors:

• Family history: A family history of similar symptoms or genetic disorders can suggest an autosomal recessive inheritance pattern.
• Physical examination: Short stature, delayed speech and language development, and other physical abnormalities such as microcephaly (small head size) or dysmorphic features may be present in individuals with MRT7.
• Laboratory tests: Genetic testing for mutations in the SLC6A17 gene can confirm the diagnosis of MRT7. Other laboratory tests such as chromosomal analysis or whole-exome sequencing may also be performed to rule out other genetic disorders.

It's worth noting that a differential diagnosis involves considering multiple possible causes of a condition, and ruling out other potential explanations before arriving at a final diagnosis. In this case, the differential diagnosis for MRT7 would involve considering other autosomal recessive intellectual developmental disorders, as well as other genetic conditions that may present with similar symptoms.

References:

• [1] - Autosomal recessive intellectual developmental disorder-7 (MRT7) is caused by homozygous mutations in the SLC6A17 gene.
• [3] - Autosomal dominant intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal dominant pattern. However, MRT7 is specifically mentioned as being caused by homozygous mutations in the SLC6A17 gene, which suggests that it is an autosomal recessive condition rather than an autosomal dominant one.
• [8] - Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 385, 1305–1314 (2015) - This reference provides more information on the genetic diagnosis of developmental disorders, including intellectual disability.