neurodevelopmental disorder with seizures and impaired intellectual and language development
MONDO:0981032Mondo
Findings
No curated finding names neurodevelopmental disorder with seizures and impaired intellectual and language development yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
137 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 1 reported patient
- Abnormal facial shapeHPOHP:0001999
- 12 of 12 reported patients
- Abnormal vertebral morphologyHPOHP:0003468
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Aortic isthmus hypoplasiaHPOHP:0034227
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Appendicular spasticityHPOHP:0034353
- 2 of 2 reported patients
- ArrhythmiaHPOHP:0011675
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- AstrocytosisHPOHP:0002446
- 1 of 1 reported patient
Show the remaining 125
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 2 of 2 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- BronchodysplasiaHPOHP:0006533
- 1 of 1 reported patient