Qazi Markouizos Syndrome

Alias:
Qazi-Markouizos Syndrome
Dysharmonic Skeletal Maturation-Muscular Fiber Disproportion Syndrome
Dysharmonic Skeletal Maturation - Muscular Fibre Disproportion
Dysharmonic Skeletal Maturation Muscular Fiber Disproportion
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Qazi Markouizos Syndrome, also known as qazi-markouizos syndrome, is related to puerto rican infant hypotonia syndrome, and has symptoms including seizures and chronic constipation. Affiliated tissues include eye and bone, and related phenotypes are eeg abnormality and severe global developmental delay
Related ID:
MESH:C536259

Basic Information

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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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