WEBB-DATTANI SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 615926
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:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
3
 (HPO:0000011) Neurogenic bladder 11 / 7739
4
 (HPO:0000126) Hydronephrosis 119 / 7739
5
 (HPO:0000490) Deeply set eye 131 / 7739
6
 (HPO:0011220) Prominent forehead 137 / 7739
7
 (HPO:0000278) Retrognathia 100 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0001257) Spasticity 251 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0000824) Growth hormone deficiency 56 / 7739
13
 (HPO:0000873) Diabetes insipidus 34 / 7739
14
 (HPO:0008245) Pituitary hypothyroidism 4 / 7739
15
 (HPO:0002827) Hip dislocation 94 / 7739
16
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
17
 (HPO:0003228) Hypernatremia 12 / 7739
18
 (HPO:0012448) Delayed myelination 51 / 7739
19
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: