neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
MONDO:0980709Mondo
Findings
No curated finding names neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral 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 · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
75 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
- 6 of 6 reported patients
- Aortic root aneurysmHPOHP:0002616
- 1 of 1 reported patient
- Appendicular spasticityHPOHP:0034353
- 2 of 2 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 2 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 8 of 8 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 4 of 4 reported patients
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Facial hemangiomaHPOHP:0000329
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 2 reported patients
Show the remaining 63
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- Inferior cerebellar vermis hypoplasiaHPOHP:0007068
- 1 of 1 reported patient
- JumpingHPOHP:5200134
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients