Arthrogryposis, Impaired Intellectual Development, and Seizures (AMRS)

Alias:
Arthrogryposis, Mental Retardation, and Seizures
Autism Spectrum Disorder - Epilepsy - Arthrogryposis Syndrome
Amrs
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Slc35a3-Cdg
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis, Impaired Intellectual Development, and Seizures, is also known as arthrogryposis, mental retardation, and seizures. An important gene associated with Arthrogryposis, Impaired Intellectual Development, and Seizures is SLC35A3 (Solute Carrier Family 35 Member A3). Affiliated tissues include kidney and spinal cord, and related phenotypes are autistic behavior and intellectual disability, mild
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
4
8

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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