NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROFIBROMATOSIS, VARIANT FORM(S) OF
NEUROFIBROMATOSIS, ATYPICAL
NF4
NF IV
Number of Symptoms 5
OrphanetNr:
OMIM Id: 162270
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0009737) Lisch nodules 10 / 7739
2
 (HPO:0007524) Atypical neurofibromatosis 1 / 7739
3
 (OMIM) Iris Lisch nodules usually absent 1 / 7739
4
 (HPO:0001425) Heterogeneous 132 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: