POLYENDOCRINE-POLYNEUROPATHY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 616113
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001730) Progressive hearing impairment 29 / 7739
2
 (HPO:0001260) Dysarthria 329 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001251) Ataxia 413 / 7739
5
 (HPO:0001332) Dystonia 197 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0011787) Central hypothyroidism 4 / 7739
8
 (HPO:0004322) Short stature 1232 / 7739
9
 (HPO:0008897) Postnatal growth retardation 113 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: