Johnson Neuroectodermal Syndrome (JMS)

Alias:
Johnson-Mcmillin Syndrome
Alopecia-Anosmia-Deafness-Hypogonadism Syndrome
Alopecia-Anosmia-Conductive Hearing Loss-Hypogonadism Syndrome
Alopecia Anosmia Deafness Hypogonadism Syndrome
Aadh Syndrome
Jms
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Johnson Neuroectodermal Syndrome, also known as johnson-mcmillin syndrome, is related to intellectual developmental disorder, x-linked, syndromic, turner type and intellectual disability-hypotonic facies syndrome, x-linked, 1. Affiliated tissues include skin and testes, and related phenotypes are alopecia and conductive hearing impairment

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
--
--
5

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

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PMID
Journal
Year
IF
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