neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
MONDO:0032784Mondo
Findings
No curated finding names neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- Epileptic encephalopathyHPOHP:0200134
- 6 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients
- MyoclonusHPOHP:0001336
- 6 of 6 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 5 of 5 reported patients
- Secondary microcephalyHPOHP:0005484
- 6 of 6 reported patients
- Developmental regressionHPOHP:0002376
- 5 of 6 reported patients
- DystoniaHPOHP:0001332
- 5 of 6 reported patients
- Myoclonic seizureHPOHP:0032794
- 5 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 6 reported patients
- Epileptic spasmHPOHP:0011097
- 4 of 6 reported patients
Show the remaining 14
- Cerebral visual impairmentHPOHP:0100704
- 3 of 6 reported patients
- ChoreoathetosisHPOHP:0001266
- 3 of 6 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 3 of 6 reported patients
- StrabismusHPOHP:0000486
- 3 of 6 reported patients
- Tonic seizureHPOHP:0032792
- 3 of 6 reported patients
- BruxismHPOHP:0003763
- 1 of 3 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.
- CACNA1BHGNC:1389
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2019
- Moderate · Illumina · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023