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Congenital hereditary facial paralysis with variable hearing loss
2 OMIM references -
1 associated gene
15 connected diseases
No signs/symptoms info
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Glucocorticoid resistance
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alpha-1-antichymotrypsin deficiency
Synonym(s):
- Congenital hereditary facial palsy with variable deafness
- Congenital hereditary facial palsy with variable hearing loss
- Congenital hereditary facial paralysis with variable deafness
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
HOXB1 P14653142968
No signs/symptoms info available.