Nathalie Syndrome

Alias:
Sensorineural Hearing Loss-Cataract-Skeletal Anomalies-Cardiomyopathy Syndrome
Deafness-Cataract-Skeletal Anomalies Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nathalie Syndrome, also known as sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome, is related to muscular atrophy and spinal muscular atrophy. Affiliated tissues include eye and heart, and related phenotypes are cataract and sensorineural hearing impairment

Basic Information

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

Medical Symptom

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

Gene & Mutation

#
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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