MCID: CNG490
MIFTS: 8

Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome

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

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

MalaCards integrated aliases for Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome:

Name: Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 55
Congenital Hereditary Facial Paralysis-Variable Deafness Syndrome 55
Congenital Hereditary Facial Palsy with Variable Hearing Loss 55
Congenital Hereditary Facial Paralysis with Variable Deafness 55
Congenital Hereditary Facial Palsy with Variable Deafness 55

Characteristics:

Orphanet epidemiological data:

55
congenital hereditary facial paralysis-variable hearing loss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA306530
ICD10 via Orphanet 33 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 congenital hereditary facial paralysis-variable deafness syndrome. 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...

Search Clinical Trials , NIH Clinical Center for Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome

Genetic Tests for Congenital Hereditary Facial Paralysis-Variable Hearing Loss...

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

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

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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