Lodder-Merla Syndrome, Type 1, with Impaired Intellectual Development and Cardiac Arrhythmia (LDMLS1)

Alias:
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Intellectual Developmental Disorder with Cardiac Arrhythmia
Iddca
Intellectual Developmental Disorder, with Cardiac Arrhythmia
Ldmls1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lodder-Merla Syndrome, Type 1, with Impaired Intellectual Development and Cardiac Arrhythmia, also known as gnb5-related intellectual disability-cardiac arrhythmia syndrome, is related to gnb5-related neurodevelopmental disorder and sick sinus syndrome. An important gene associated with Lodder-Merla Syndrome, Type 1, with Impaired Intellectual Development and Cardiac Arrhythmia is GNB5 (G Protein Subunit Beta 5). Affiliated tissues include heart and eye, and related phenotypes are global developmental delay and abnormality of the cardiovascular system
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
9
58
8

Medical Symptom

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Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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