Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss (PNMHH)

Alias:
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Pnmhh
Neuropathy, Peripheral, Myopathy, Hoarseness, and Hearing Loss
Peripheral Neuropathy-Myopathy-Hoarseness-Deafness Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss, also known as peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and deafness, autosomal dominant 4a. An important gene associated with Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is MYH14 (Myosin Heavy Chain 14). Affiliated tissues include skeletal muscle, and related phenotypes are myopathy and decreased nerve conduction velocity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
1
6
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
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IF
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