autosomal dominant intellectual developmental disorder 41

Autosomal dominant intellectual developmental disorder 41 (MRD41) is a rare genetic disorder characterized by significant below-average general intellectual functioning associated with impairments in adaptive behavior.

Key Features:

• Delayed psychomotor development [4]
• Variable severity of intellectual disability [4]
• Delayed language development [4]
• Non-specific dysmorphic features [4]

Clinical Presentation: MRD41 patients may exhibit a range of clinical features, including:

• Downturned corners of mouth
• Long palpebral fissure
• Thick eyebrow
• Hypotonia
• Autistic behavior
• Epileptic spasm
• Global developmental delay [3]

Genetic Cause: MRD41 is caused by mutations in the TBL1XR1 gene, which is associated with autosomal dominant non-syndromic intellectual disability [5, 6].

Definition: Intellectual developmental disorder, autosomal dominant 41 (MRD41) is a condition characterized by significantly below-average general intellectual functioning associated with impairments in adaptive behavior [7, 9].

Based on the available information, here are the signs and symptoms of autosomal dominant intellectual developmental disorder 41 (MRD41):

• Global developmental delay [1]
• Macrocephaly with frontal bossing [1]
• High levels of anxiety [1]
• Features suggestive of a neurodevelopmental disorder [1]
• Downturned corners of mouth [2]
• Long palpebral fissure [2]
• Thick eyebrow [2]
• Hypotonia (poor muscle tone) [4]
• Delays in the development of motor skills like sitting, standing, and walking [4]
• Affected speech [4]

Please note that these symptoms may vary from person to person, and not everyone with MRD41 will exhibit all of them. It's also worth mentioning that some of these features can be similar to those found in other neurodevelopmental disorders.

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

Based on the available information, here are some diagnostic tests that may be used to diagnose autosomal dominant intellectual developmental disorder:

• Clinical tests: There are 16 clinical tests available for this condition, including deletion/duplication analysis (12), targeted variant analysis (5), and sequence analysis of the entire coding region (43) [1].
• Molecular Genetics Tests: Deletion/duplication analysis (28), Targeted variant analysis (5), Sequence analysis of the entire coding region (43), Detection of homozygosity (2), Sequence analysis of the entire coding region (43) [2-4].
• Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member. This condition is autosomal dominant, meaning that only one copy of the mutated gene is needed to cause the disorder [3].

It's worth noting that because the features of Intellectual developmental disorder, autosomal dominant 41 are common, a genetic test (such as whole exome or genome sequencing) may be needed for diagnosis. A different type of genetic change in the SETBP1 gene causes a different and more severe condition called Schinzel Giedion syndrome [15].

References:

[1] Available tests. 16 tests are in the database for this condition. [2] Targeted variant analysis (5) · Deletion/duplication analysis (28) · Sequence analysis of the entire coding region (43) · Detection of homozygosity (2) [3] Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member. The disorder is autosomal dominant. [4] Intellectual developmental disorder, autosomal dominant 23 is characterized by below-average intellectual functioning and impairments in adaptive behavior. [5] Sequence analysis of the entire coding region (43) [6] Detection of homozygosity (2)

Based on the provided context, it appears that there is limited information available on the specific treatment for Autosomal Dominant Intellectual Developmental Disorder-41 (MRD41). However, I can provide some general information on the treatment of related conditions.

• Risperidone: According to search result 4, Risperidone has been used as a treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorders. While this may not be specific to MRD41, it suggests that some treatments used for related conditions may also be effective for MRD41.
• General Treatment Approaches: Search result 2 mentions that ADNP syndrome (a similar condition) can lead to a wide range of challenges, and treatment often involves addressing these specific issues. This implies that treatment for MRD41 may involve a comprehensive approach tailored to the individual's needs.

Unfortunately, I couldn't find any specific information on the drug treatment of Autosomal Dominant Intellectual Developmental Disorder-41 (MRD41) in the provided context. However, it is essential to consult with a medical professional or a genetic counselor for personalized advice and guidance on managing this condition.

If you're looking for more information, I can try searching again or provide general information on related topics. Please let me know how I can assist further!

The differential diagnosis for autosomal dominant intellectual developmental disorder (ADIDD) involves considering various other conditions that can present with similar symptoms.

According to the search results, ADIDD is characterized by intellectual disability inherited in an autosomal dominant pattern [5]. The differential diagnosis includes all other syndromes associated with neurodevelopmental disorders, seizure, obesity, and behavioral disturbances [6].

Some of these conditions include:

• Other autosomal dominant disorders such as achondroplasia, some forms of amelogenesis imperfecta, and Marfan syndrome [3]
• Syndromic developmental delay/intellectual disability (DD/ID) with extensive differential diagnosis [4]
• Rare genetic disorders like Cohen syndrome, which is marked by multi-systemic involvement, causing developmental delays, intellectual disabilities, microcephaly, and other symptoms [9]

It's essential to consider these conditions when diagnosing ADIDD, as they can present with similar symptoms. A comprehensive evaluation and diagnostic workup are necessary to accurately diagnose ADIDD and rule out other potential causes.

References: [3] Other autosomal dominant disorders include achondroplasia, some forms of amelogenesis imperfecta, and Marfan syndrome. [4] The syndrome has an extensive differential diagnosis in the context of syndromic DD/ID. [5] Autosomal dominant intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal dominant pattern. [6] The differential diagnosis includes all other syndromes associated with neurodevelopmental disorder, seizure, obesity and behavioral disturbances.