MCID: CNG490
MIFTS: 8

Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Ear 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 59
Congenital Hereditary Facial Paralysis-Variable Deafness Syndrome 59
Congenital Hereditary Facial Palsy with Variable Hearing Loss 59
Congenital Hereditary Facial Paralysis with Variable Deafness 59
Congenital Hereditary Facial Palsy with Variable Deafness 59

Characteristics:

Orphanet epidemiological data:

59
congenital hereditary facial paralysis-variable hearing loss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....