Fanconi syndrome - ichthyosis - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs:
Deal-Barrat-Dillon syndrome [Orphanet]
Number of Symptoms 8
OrphanetNr: 1981
OMIM Id:
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.

Comment:

Orphanet says that this disease has been moved to "Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC syndrome)" (June, 2016).

Symptom Information: Sort by abundance 

1
 (HPO:0002014) Diarrhea 2206896 IBIS 225 / 7739
2
 (HPO:0001941) Acidosis 2206896 IBIS 9 / 7739
3
 (HPO:0001944) Dehydration 2206896 IBIS 59 / 7739
4
 (HPO:0100806) Sepsis 2206896 IBIS 48 / 7739
5
 (HPO:0000952) Jaundice 2206896 IBIS 105 / 7739
6
 (HPO:0008064) Ichthyosis 2206896 IBIS 108 / 7739
7
 (HPO:0001994) Renal Fanconi syndrome 2206896 IBIS 12 / 7739
8
 (HPO:0011875) Abnormal platelet morphology 2206896 IBIS 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: