autosomal recessive intellectual developmental disorder 72

Autosomal Recessive Intellectual Developmental Disorder-72 (MRT72) is a rare genetic condition characterized by moderately to severely impaired intellectual development, microcephaly, and other associated features.

• The condition is caused by a homozygous mutation in the METTL5 gene on chromosome 17 [8].
• Individuals with MRT72 may experience delayed speech and language development [5].
• Developmental delay, predominant speech delay, autistic or behavioral problems are also common features of this syndrome [4][6][9].

It's essential to note that each individual with MRT72 may exhibit a unique set of symptoms, and the severity of the condition can vary widely among affected individuals.

References: [1] - Characterized by moderately to severely impaired intellectual development [3] - Moderately to severely impaired intellectual development, microcephaly [5] - Delayed speech and language development [8] - Caused by a homozygous mutation in the METTL5 gene on chromosome 17

Based on the available information, here are the signs and symptoms associated with Autosomal Recessive Intellectual Developmental Disorder 72 (MRT72):

• Impaired intellectual development: This condition is characterized by impaired intellectual development, which can manifest as delayed or absent speech, poor sleep patterns, and other cognitive difficulties [1].
• Global developmental delay: Children with MRT72 may experience global developmental delays, including delays in motor skills such as sitting, standing, and walking [5].
• Unique personality characteristics: Individuals with this condition may exhibit unique personality characteristics, which can vary from person to person [4].

It's worth noting that the severity and specific symptoms of MRT72 can vary widely among affected individuals. If you're looking for more detailed information or would like to know about other related conditions, please let me know!

References: [1] - Context result 2 [4] - Context result 4 [5] - Context result 5

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 72, also known as autosomal recessive non-syndromic intellectual disability, is a rare genetic condition that affects cognitive development. Diagnostic tests for ARIDD 72 are crucial for accurate diagnosis and management of the condition.

Diagnostic Tests:

• Chromosomal microarray analysis is recommended as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies [4].
• Genetic testing can identify mutations in specific genes associated with ARIDD 72, such as ST3GAL3 (1p34.1) [2].
• Molecular diagnostic testing may be conducted to detect mutations in the HNMT gene, which is known to cause autosomal recessive non-syndromic intellectual disability [6].
• Gene-based burden testing can also be performed to identify new recessive genes underlying developmental disorders [10].

Additional Information:

• Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually for diagnostic purposes [5].
• Metabolic testing and karyotype analysis may also be considered as part of a comprehensive diagnostic evaluation.

References: [1] - Clinical resource with information about Intellectual developmental disorder autosomal recessive 74 and its clinical features, APC2, available genetic tests ... [2] - Clinical Genetic Test offered by Intergen for conditions (1): Intellectual disability, autosomal recessive 12; Testing genes (1): ST3GAL3 (1p34.1); ... [4] - Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [5] - Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT ... [6] - Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. [10] - by VK Chundru · 2024 · Cited by 1 — Finally, we conduct gene-based burden testing to identify new recessive genes underlying developmental disorders.

Based on the provided context, it appears that there is limited information available on the specific drug treatment for autosomal recessive intellectual developmental disorder 72 (ARIDD-72). However, I can provide some general information on the topic.

Current Treatment Options

Unfortunately, there are no specific treatments mentioned in the search results for ARIDD-72. The context suggests that most of the information provided is related to other conditions or disorders, and not specifically to ARIDD-72.

General Information on Intellectual Developmental Disorders

Intellectual developmental disorders (IDDs) are a group of neurodevelopmental disorders characterized by significant impairments in intellectual functioning and adaptive behavior. While there may be some general treatment options available for IDDs, such as behavioral therapies or educational interventions, these would not be specific to ARIDD-72.

Genetic Counseling

The context mentions genetic counseling for conditions like SCN8A-related epilepsy and/or neurodevelopmental disorders, which are inherited in an autosomal dominant manner. However, this information is not relevant to the treatment of ARIDD-72.

In summary, based on the provided context, it appears that there is limited or no specific information available on the drug treatment for autosomal recessive intellectual developmental disorder 72 (ARIDD-72). If you have any further questions or would like me to search again, please let me know.

The differential diagnosis for autosomal recessive intellectual developmental disorder (ID) 72, also known as mental retardation, autosomal recessive 72, includes several conditions that can present with similar symptoms.

• Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and behavioral impairments, often accompanied by speech difficulties and epilepsy. [6]
• Coffin-Siris syndrome: A rare genetic disorder that affects physical and intellectual development, characterized by distinctive facial features, hair loss, and intellectual disability. [7]
• Autosomal recessive deafness-onychodystrophy syndrome: A condition that combines hearing loss with nail abnormalities and intellectual disability. [7]

It's essential to note that the differential diagnosis for autosomal recessive ID 72 is extensive, and a comprehensive evaluation by a qualified healthcare professional is necessary to rule out these conditions.

According to research, the autosomal recessive inheritance of intellectual disabilities accounts for less than 12% of cases, making it relatively rare. [8]

In terms of genetic causes, large chromosomal abnormalities, submicroscopic copy number variants, and monogenic mutations are all potential contributors to ID, including autosomal recessive forms. [1]