Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation

Alias:
Ramos-Arroyo Syndrome
Corneal Anesthesia-Hearing Loss-Intellectual Disability Syndrome
Corneal Anesthesia-Deafness-Intellectual Disability Syndrome
Ramos Arroyo Clark Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation, also known as ramos-arroyo syndrome, is related to sensorineural hearing loss and hirschsprung disease 1. Affiliated tissues include eye and tongue, and related phenotypes are abnormal midface morphology and decreased corneal sensation

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
--
--
2

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
Year
IF
No Data Found!
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