renal hypomagnesemia 4
MONDO:0012717Mondo
Findings
No curated finding names renal hypomagnesemia 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.
Definition from the Mondo Disease Ontology (MONDO:0012717), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypomagnesemiaHPOHP:0002917
- 2 of 2 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EGFHGNC:3229
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: renal hypomagnesemia 4
- Also called
- EGF familial primary hypomagnesemiaEGF primary hypomagnesemiafamilial primary hypomagnesemia caused by mutation in EGFHOMG4primary hypomagnesemia caused by mutation in EGFrenal hypomagnesemia type 4