neurodevelopmental disorder with or without autism or seizures
MONDO:0030994Mondo
Findings
No curated finding names neurodevelopmental disorder with or without autism or 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
22 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 thumbHPOHP:0009777
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 3 reported patients · Infantile onset
- Severe intellectual disabilityHPOHP:0010864
- 1 of 2 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 3 reported patients
Show the remaining 10
- Bifid uvulaHPOHP:0000193
- 1 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 3 reported patients
- EEG with burst suppressionHPOHP:0010851
- 1 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- HyperactivityHPOHP:0000752
- 1 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 3 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.
- CUL3HGNC:2553
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with or without autism or seizures
- Also called
- NEDAUS