MOYAMOYA DISEASE 6 WITH ACHALASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615750
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:0000802) Impotence 20 / 7739
2
 (HPO:0001269) Hemiparesis rare [HPO:skoehler] 51 / 7739
3
 (HPO:0002015) Dysphagia 301 / 7739
4
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
5
 (HPO:0002571) Achalasia 19 / 7739
6
 (HPO:0000965) Cutis marmorata rare [HPO:skoehler] 46 / 7739
7
 (HPO:0000822) Hypertension rare [HPO:skoehler] 224 / 7739
8
 (HPO:0002140) Ischemic stroke rare [HPO:skoehler] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: