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1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Autosomal dominant primary hypomagnesemia with hypocalciuria
Classic Mayer-Rokitansky-Küster-Hauser syndrome

FXYD2 HNF1B
HNF1B LHX1
TBX6


COMMON
GENES
HNF1B



Citations in the biomedical literature:


Autosomal dominant primary hypomagnesemia with hypocalciuria
FXYD2 HNF1B
Classic Mayer-Rokitansky-Küster-Hauser syndrome
LHX1 TBX6



Autosomal dominant primary hypomagnesemia with hypocalciuria
Classic Mayer-Rokitansky-Küster-Hauser syndrome

Synonym(s):
- HOMG2
- Isolated autosomal dominant hypomagnesemia
- Isolated renal magnesium wasting
- Renal hypomagnesemia type 2

Synonym(s):
- Classic MRKH syndrome
- Classic Rokitansky syndrome
- MRKH syndrome type 1
- Mayer-Rokitansky-Küster-Hauser syndrome type 1
- Rokitansky sequence

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal disease
- Rare urogenital disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.