Oto-onycho-peroneal syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 2793
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
2
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
3
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
4
 (HPO:0011039) Abnormality of the helix Very frequent [Orphanet] 33 / 7739
5
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
6
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
7
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
8
 (HPO:0009756) Popliteal pterygium Very frequent [Orphanet] 9 / 7739
9
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
10
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
11
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: