hypomagnesemia, seizures, and intellectual disability 1
MONDO:0020787Mondo
Findings
No curated finding names hypomagnesemia, seizures, and intellectual disability 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
9 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.
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- HypomagnesemiaHPOHP:0002917
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- 5 of 6 reported patients
- Class III obesityHPOHP:0025501
- 2 of 5 reported patients
- Absent speechHPOHP:0001344
- 2 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 6 reported patients
- Open operculumHPOHP:0100954
- 1 of 6 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.
- CNNM2HGNC:103
- Definitive · ClinGen · Semidominant · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal dominant · 2025