Foix-Chavany-Marie syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 2048
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
2
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
3
(HPO:0009800) Maternal diabetes Very frequent [Orphanet] 14 / 7739
4
(HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
5
(HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
6
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: