myoclonus, intractable, neonatal
MONDO:0014979Mondo
Findings
No curated finding names myoclonus, intractable, neonatal 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
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
21 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.
- ApneaHPOHP:0002104
- 2 of 2 reported patients
- AthetosisHPOHP:0002305
- 2 of 2 reported patients
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient · Neonatal onset
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 3 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 2 reported patients
Show the remaining 9
- Progressive leukoencephalopathyHPOHP:0006980
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 3 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 2 reported patients
- ChoreaHPOHP:0002072
- 1 of 2 reported patients
- Horizontal nystagmusHPOHP:0000666
- 1 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.
- KIF5AHGNC:6323
- Definitive · G2P · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Illumina · Autosomal dominant · 2022
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: myoclonus, intractable, neonatal
- Also called
- myoclonus, intractable, neonatal; NEIMYNEIMY