HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 239350
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:0000103) Polyuria 60 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0000737) Irritability 93 / 7739
4
 (HPO:0002013) Vomiting 191 / 7739
5
 (HPO:0002014) Diarrhea 225 / 7739
6
 (HPO:0001945) Fever 218 / 7739
7
 (HPO:0002905) Hyperphosphatemia 18 / 7739
8
 (HPO:0001608) Abnormality of the voice 126 / 7739
9
 (HPO:0001281) Tetany 20 / 7739
10
 (OMIM) High pitched cry 5 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Intermittent polyuria 1 / 7739
13
 (OMIM) Refusal of solid food 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: