Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 (HOMGSMR2)

Alias:
Homgsmr2
Hypomagnesemia, Seizures, and Intellectual Disability 2
Hypomagnesemia, Seizures, and Mental Retardation Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypomagnesemia, Seizures, and Impaired Intellectual Development 2, also known as homgsmr2, is related to charcot-marie-tooth disease, axonal, type 2dd and menkes disease. An important gene associated with Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 is ATP1A1 (ATPase Na+/K+ Transporting Subunit Alpha 1). Affiliated tissues include kidney, and related phenotypes are seizure and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
8
1

Medical Symptom

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

Gene & Mutation

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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
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IF
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