syndromic X-linked intellectual disability Hedera type

Characteristics of Syndromic X-linked Intellectual Disability, Hedera Type

Syndromic X-linked intellectual disability, Hedera type is a rare genetic disorder characterized by significant developmental delays and impairments in adaptive behavior. The syndrome typically manifests in infancy, with delayed motor skills and cognitive development being the primary symptoms.

• Global Developmental Delay: Children with Hedera type often exhibit global developmental delay, which means they experience significant delays in multiple areas of development, including physical, language, and cognitive skills [4].
• Motor Delays: Motor skills are typically affected, with children experiencing delayed or absent milestones such as sitting, crawling, and walking [8].
• Intellectual Disability: The syndrome is associated with mild to moderate intellectual disability, which can impact an individual's ability to learn, reason, and adapt to their environment [5][9].

Additional Symptoms

In addition to the primary symptoms mentioned above, individuals with Hedera type may also experience:

• Epilepsy: Seizures are a common feature of this syndrome, which can range from mild to severe in intensity [6][7].
• Other medical complications: Some individuals may experience other medical issues, such as vision or hearing impairments, that require ongoing management and care.

References

[4] Description of Hedera type X-linked intellectual disability [5] Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that ... [6] Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the... [7] Alt IDs: OMIM:300423, ORDO:93952 ; Definition: A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy ... [8] X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and... [9] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested...

Based on the available information, it appears that the Hedera type of X-linked syndromic intellectual developmental disorder (MRXSH) is characterized by global developmental delay apparent from infancy.

• The primary symptom associated with this condition is global developmental delay, which becomes apparent from infancy [2].
• This suggests that individuals with MRXSH may experience significant delays in various aspects of development, including cognitive, motor, and language skills.
• It's essential to note that the Hedera type of X-linked syndromic intellectual disability is a specific subtype within the broader category of syndromic intellectual disabilities.

References: [2] The Hedera type of X-linked syndromic intellectual developmental disorder (MRXSH) is characterized by global developmental delay apparent from infancy.

Diagnostic Tests for Syndromic X-linked Intellectual Disability, Hedera Type

Syndromic X-linked intellectual disability, Hedera type is a rare genetic disorder characterized by delayed motor and speech milestones in infancy. To diagnose this condition, various clinical tests can be employed.

• Clinical Genetic Test: A clinical genetic test offered by Intergen for conditions such as Syndromic X-linked intellectual disability Hedera type involves testing genes, including the ATP6AP2 gene located on the Xp11.4 chromosome [2].
• Molecular Genetics Tests: Molecular genetics tests are available to identify the underlying genetic cause of syndromic X-linked intellectual disability, Hedera type [1].
• A 106 Gene Panel: A 106 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of X-linked intellectual disability, including Hedera type [4].

These diagnostic tests can help identify the genetic cause of syndromic X-linked intellectual disability, Hedera type and provide essential information for medical professionals to develop an effective treatment plan.

References:

[1] Clinical Genetic Test offered by Intergen for conditions (1): Syndromic X-linked intellectual disability Hedera type; Testing genes (1): ATP6AP2 (Xp11.4) ...

[2] Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones.

[3] A 106 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of X-linked intellectual disability.

[4] Indications for Test​​ This panel is recommended for patients with syndromic or nonsyndromic intellectual disability, and a family history indicating X-linked disease.

Based on the provided context, it appears that there are some relevant search results related to Wilson disease (WD) and its treatment.

Wilson disease is a genetic disorder that affects copper metabolism in the body. The context mentions medications targeting ET (likely Essential Tremor), but also references WD and its treatment.

According to search result [2], diagnosed WD patients require life-long pharmacologic therapy focused on reversal of copper overload with maintenance of a long-term negative copper balance. This suggests that drug treatment is indeed relevant for Wilson disease, which might be related to Hedera type X-linked intellectual disability.

However, I couldn't find any direct information on the "Hedera type" of syndromic X-linked intellectual disability in the provided context. It's possible that this is a specific subtype or variant of WD, but without more information, it's difficult to provide a clear answer.

If you could provide more context or clarify what Hedera type refers to, I'd be happy to try and assist further.

Possible treatment options for Wilson disease:

• Medications targeting ET may also be effective in treating WD (search result [1])
• Trientine salts are mentioned as a treatment option for WD (search result [6])

Please note that these are just possible connections based on the provided context, and more information would be needed to confirm the relevance of these findings.

Based on the provided context, it appears that differential diagnosis for syndromic X-linked intellectual disability, specifically Hedera type, involves considering other forms of X-linked ID when family inheritance is suggestive.

• Other differential diagnoses include other forms of X-linked ID, such as Turner-type X-linked syndromic intellectual developmental disorder (MRXST), which has a highly variable phenotype [1][3].
• Mutations in X-linked genes account for 5-10% of all types of ID and are the most likely causes of ID in males [8].

When considering differential diagnoses, it's essential to take into account the family inheritance pattern, as this can provide clues about the underlying genetic cause.

In the case of Hedera type syndromic X-linked intellectual disability, other forms of X-linked ID should be considered when the family inheritance is suggestive. This includes Turner-type X-linked syndromic intellectual developmental disorder (MRXST), which has a highly variable phenotype [3][5].

Mutations in X-linked genes are also a significant cause of ID in males, accounting for 5-10% of all types of ID [8].