FACIAL PARESIS, HEREDITARY CONGENITAL, 3

General Information (adopted from Orphanet):

Synonyms, Signs: HCFP3
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614744
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
2
(HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
3
(HPO:0000319) Smooth philtrum rare [HPO:skoehler] 72 / 7739
4
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
5
(HPO:0000463) Anteverted nares rare [HPO:skoehler] 305 / 7739
6
(HPO:0011800) Midface retrusion rare [HPO:skoehler] 221 / 7739
7
(HPO:0010628) Facial palsy 146 / 7739
8
(HPO:0000565) Esotropia rare [HPO:skoehler] 58 / 7739
9
(HPO:0000486) Strabismus 576 / 7739
10
(HPO:0000358) Posteriorly rotated ears rare [HPO:skoehler] 163 / 7739
11
(HPO:0000369) Low-set ears rare [HPO:skoehler] 372 / 7739
12
(HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
13
(HPO:0003680) Nonprogressive disorder 23 / 7739
14
(OMIM) Facial paresis, congenital bilateral 1 / 7739
15
(OMIM) Hearing loss, sensorineural, mild to moderate 3 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Webb et al. (2012) studied 2 brothers, born of consanguineous parents of conservative German American background, who had previously been diagnosed with Moebius syndrome (157900). The sibs were noted to have bilateral facial weakness, sensorineural hearing loss, and ...
Molecular genetics OMIM Using DNA from 1 of 2 brothers with congenital facial paresis from a consanguineous conservative German American family, Webb et al. (2012) performed whole-exome sequencing and filtering, which yielded 5 missense variants that were homozygous in the affected ...