developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
MONDO:0859263Mondo
Findings
No curated finding names developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 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
10 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Atonic seizureHPOHP:0010819
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- Multifocal epileptiform dischargesHPOHP:0010841
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient
- Tonic seizureHPOHP:0032792
- 1 of 1 reported patient
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.
- ARFGEF1HGNC:15772
- Definitive · Illumina · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of