Muscular Dystrophy-Dystroglycanopathy , Type a, 4 (MDDGA4)

Alias:
Fukuyama Congenital Muscular Dystrophy
Fcmd
Congenital Muscular Dystrophy, Fukuyama Type
Fukuyama Type Congenital Muscular Dystrophy
Fktn-Related Congenital Muscular Dystrophy
Mddga4
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4
Muscular Dystrophy, Congenital, with Central Nervous System Involvement
Muscular Dystrophy, Congenital Progressive, with Mental Retardation
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fktn-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A4
Muscular Dystrophy, Congenital, Fukuyama Type
Congenital Muscular Dystrophy Fukuyama Type
Cerebromuscular Dystrophy, Fukuyama Type
Cerebromuscular Dystrophy Fukuyama Type
Polymicrogyria with Muscular Dystrophy
Micropolygyria with Muscular Dystrophy
Muscle-Eye-Brain Disease Fktn-Related
Walker-Warburg Syndrome Fktn-Related
Fukuyama-Type Muscular Dystrophy
Fukuyama Muscular Dystrophy
Fukuyama Syndrome
Fukuyama Cmd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type a, 4, also known as fukuyama congenital muscular dystrophy, is related to cardiomyopathy, dilated, 1x and lissencephaly 2, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4 is FKTN (Fukutin), and among its related pathways/superpathways are Metabolism of proteins and Extracellular matrix organization. Affiliated tissues include eye and brain, and related phenotypes are gait disturbance and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/100000
26
166
106

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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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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