neurodevelopmental disorder with or without seizures and gait abnormalities
MONDO:0060641Mondo
Findings
No curated finding names neurodevelopmental disorder with or without seizures and gait abnormalities 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
- Infantile onset
HPO, annotations 2026-09-02
Features
30 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.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Absent speechHPOHP:0001344
- 3 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 5 reported patients
- MacrotiaHPOHP:0000400
- 3 of 5 reported patients
- Exaggerated startle responseHPOHP:0002267
- 2 of 5 reported patients
- HypertoniaHPOHP:0001276
- 2 of 5 reported patients · Neonatal onset
- IrritabilityHPOHP:0000737
- 2 of 5 reported patients · Neonatal onset
- SeizureHPOHP:0001250
- 2 of 5 reported patients
- Short attention spanHPOHP:0000736
- 2 of 5 reported patients
- SpasticityHPOHP:0001257
- 2 of 5 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 5 reported patients
Show the remaining 18
- ChoreaHPOHP:0002072
- 1 of 5 reported patients
- EEG with generalized slow activityHPOHP:0010845
- 1 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 5 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 5 reported patients
- Inability to walkHPOHP:0002540
- 1 of 5 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.
- GRIA4HGNC:4574
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Moderate · Illumina · Autosomal dominant · 2020
- Moderate · ClinGen · Autosomal dominant · 2024
- Limited · G2P · Autosomal dominant · 2019