MCID: CNG490
MIFTS: 8

Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome

Categories: Ear diseases, Fetal diseases, Neuronal 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 60
Congenital Hereditary Facial Paralysis-Variable Deafness Syndrome 60
Congenital Hereditary Facial Palsy with Variable Hearing Loss 60
Congenital Hereditary Facial Paralysis with Variable Deafness 60
Congenital Hereditary Facial Palsy with Variable Deafness 60

Characteristics:

Orphanet epidemiological data:

60
congenital hereditary facial paralysis-variable hearing loss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.0
Orphanet 60 ORPHA306530

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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