Familial primary hypomagnesemia with normocalcuria and normocalcemia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr: 34527
OMIM Id: 611718
613882
ICD-10: E83.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial primary hypomagnesemia with normocalcuria
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0002342) Intellectual disability, moderate 2/2 [HPO:probinson] 37 / 7739
2
 (HPO:0001250) Seizures 2/2 [HPO:probinson] 1245 / 7739
3
 (HPO:0001263) Global developmental delay 2/2 [HPO:probinson] 853 / 7739
4
 (HPO:0002917) Hypomagnesemia 2/2 [HPO:probinson] 19 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: