hypomagnesemia, seizures, and intellectual disability 2
MONDO:0020788Mondo
Findings
No curated finding names hypomagnesemia, seizures, and intellectual disability 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Generalized-onset seizureHPOHP:0002197
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypokalemiaHPOHP:0002900
- 3 of 3 reported patients
- HypomagnesemiaHPOHP:0002917
- 3 of 3 reported patients
- Renal magnesium wastingHPOHP:0005567
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- PolyuriaHPOHP:0000103
- 2 of 3 reported patients
- Status epilepticusHPOHP:0002133
- 2 of 3 reported patients
- HyperactivityHPOHP:0000752
- 1 of 3 reported patients
- Self-bitingHPOHP:0012169
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
- NephrocalcinosisHPOHP:0000121
- 0 of 3 reported patients
Show the remaining 1
- Renal potassium wastingHPOHP:0000128
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.
- ATP1A1HGNC:799
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Limited · Illumina · Autosomal dominant · 2019