developmental delay and seizures with or without movement abnormalities
MONDO:0044326Mondo
Findings
No curated finding names developmental delay and seizures with or without movement abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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.
- Epileptic encephalopathyHPOHP:0200134
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 8 reported patients · Infantile onset
- TremorHPOHP:0001337
- 6 of 8 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 5 of 8 reported patients · Childhood onset
- AtaxiaHPOHP:0001251
- 4 of 8 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 8 reported patients · Childhood onset
- Generalized hypotoniaHPOHP:0001290
- 3 of 8 reported patients
- Myoclonic absence seizureHPOHP:0011150
- 2 of 8 reported patients · Childhood onset
- Chiari type I malformationHPOHP:0007099
- 1 of 8 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.
- DHDDSHGNC:20603
- Definitive · Natera · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025