seizures, early-onset, with neurodegeneration and brain calcifications
MONDO:0030033Mondo
Findings
No curated finding names seizures, early-onset, with neurodegeneration and brain calcifications yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Appendicular hypotoniaHPOHP:0012389
- 5 of 5 reported patients
- Axial hypotoniaHPOHP:0008936
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- 6 of 6 reported patients · Infantile onset
- Delayed CNS myelinationHPOHP:0002188
- 5 of 6 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 6 reported patients
- Cerebral atrophyHPOHP:0002059
- Periventricular leukomalaciaHPOHP:0006970
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.
- NRROSHGNC:24613
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Illumina · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: seizures, early-onset, with neurodegeneration and brain calcifications
- Also called
- seizures, early-onset, with neurodegeneration and brain calcificationSENEBAC