MCID: CNG490
MIFTS: 8

Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Ear diseases

Aliases & Classifications for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

Aliases & Descriptions for Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome:

Name: Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 56
Parálisis Facial Hereditaria Congénita Con Pérdida De Audición Variable 56
Congenital Hereditary Facial Paralysis-Variable Deafness Syndrome 56
Congenital Hereditary Facial Palsy with Variable Hearing Loss 56
Congenital Hereditary Facial Paralysis with Variable Deafness 56
Parálisis Facial Hereditaria Congénita Con Sordera Variable 56
Congenital Hereditary Facial Palsy with Variable Deafness 56

Characteristics:

Orphanet epidemiological data:

56
congenital hereditary facial paralysis-variable hearing loss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA306530
ICD10 via Orphanet 34 Q87.0

Summaries for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

MalaCards based summary : Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome, is also known as parálisis facial hereditaria congénita con pérdida de audición variable. An important gene associated with Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome is HOXB1 (Homeobox B1).

Related Diseases for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

Symptoms & Phenotypes for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

Drugs & Therapeutics for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

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Anatomical Context for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

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Variations for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

Expression for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

Search GEO for disease gene expression data for Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome.

Pathways for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

GO Terms for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

Sources for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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42 MeSH
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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