CULLER-JONES SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615849
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:0000054) Micropenis 257 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000204) Cleft upper lip rare [HPO:skoehler] 193 / 7739
4
 (HPO:0011800) Midface retrusion rare [HPO:skoehler] 221 / 7739
5
 (HPO:0000601) Hypotelorism rare [HPO:skoehler] 83 / 7739
6
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
7
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
8
 (HPO:0000873) Diabetes insipidus rare [HPO:skoehler] 34 / 7739
9
 (HPO:0011755) Ectopic posterior pituitary 4 / 7739
10
 (HPO:0010627) Anterior pituitary hypoplasia 6 / 7739
11
 (HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
12
 (HPO:0004322) Short stature 1232 / 7739
13
 (HPO:0040075) Hypopituitarism 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: