AUROCEPHALOSYNDACTYLY

General Information (adopted from Orphanet):

Synonyms, Signs: AURALCEPHALOSYNDACTYLY
Number of Symptoms 9
OrphanetNr:
OMIM Id: 109050
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:0001363) Craniosynostosis 132 / 7739
2
 (HPO:0002000) Short columella 11 / 7739
3
 (HPO:0000365) Hearing impairment 539 / 7739
4
 (HPO:0001256) Intellectual disability, mild 141 / 7739
5
 (HPO:0004692) 4-5 toe syndactyly 6 / 7739
6
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
7
 (OMIM) Characteristic pinnae 1 / 7739
8
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: