CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 214980
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:0007863) Retinal lesions 1 / 7739
2
 (HPO:0001488) Bilateral ptosis 42 / 7739
3
 (HPO:0000546) Retinal degeneration 61 / 7739
4
 (HPO:0000648) Optic atrophy 238 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0100490) Camptodactyly of finger 212 / 7739
7
 (HPO:0012385) Camptodactyly 113 / 7739
8
 (HPO:0000952) Jaundice 105 / 7739
9
 (HPO:0001081) Cholelithiasis 36 / 7739
10
 (HPO:0200084) Giant cell hepatitis 8 / 7739
11
 (HPO:0000989) Pruritus 111 / 7739
12
 (OMIM) Congenital cholestasis 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: