ACHARD SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 100700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000347) Micrognathia 426 / 7739
2
(HPO:0000248) Brachycephaly 222 / 7739
3
(HPO:0002682) Broad skull 5 / 7739
4
(HPO:0001388) Joint laxity 117 / 7739
5
(HPO:0001166) Arachnodactyly 62 / 7739
6
(OMIM) Joint laxity limited to hands and feet 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: