neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
MONDO:0859531Mondo
Findings
No curated finding names neurodevelopmental disorder with language delay 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
35 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 32 of 32 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 34 of 34 reported patients
- Globus pallidus calcificationHPOHP:0031627
- 1 of 1 reported patient
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
Show the remaining 23
- MacrotiaHPOHP:0000400
- 1 of 1 reported patient
- Mild short statureHPOHP:0003502
- 1 of 1 reported patient
- Moderate intellectual disabilityHPOHP:0002342
- 2 of 2 reported patients
- Motor stereotypyHPOHP:0000733
- 1 of 1 reported patient
- Round faceHPOHP:0000311
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 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.
- AGO1HGNC:3262
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025