neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
MONDO:0030024Mondo
Findings
No curated finding names neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 6 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 4 reported patients
- SpasticityHPOHP:0001257
- 4 of 6 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 6 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 6 reported patients
- Inappropriate laughterHPOHP:0000748
- 2 of 6 reported patients
- SeizureHPOHP:0001250
- 2 of 6 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 6 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 6 reported patients
Show the remaining 8
- BrachycephalyHPOHP:0000248
- 1 of 6 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 6 reported patients
- Chiari type I malformationHPOHP:0007099
- 1 of 6 reported patients
- Deep philtrumHPOHP:0002002
- 1 of 6 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 6 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 6 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.
- NOVA2HGNC:7887
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
- Also called
- NEDASB