AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 204850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000153) Abnormality of the mouth 60 / 7739
2
 (HPO:0000629) Periorbital fullness 13 / 7739
3
 (HPO:0100540) Palpebral edema 31 / 7739
4
 (HPO:0100539) Periorbital edema 8 / 7739
5
 (HPO:0000618) Blindness 124 / 7739
6
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0011034) Amyloidosis 12 / 7739
9
 (OMIM) Primary amyloidosis of gingiva 1 / 7739
10
 (OMIM) Leukoma 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: