neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
MONDO:0032877Mondo
Findings
No curated finding names neurodevelopmental disorder with nonspecific brain abnormalities and 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
HPO, annotations 2026-09-02
Features
18 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.
- Global developmental delayHPOHP:0001263
- 12 of 14 reported patients
- Abnormal brain morphologyHPOHP:0012443
- 11 of 15 reported patients
- Abnormal facial shapeHPOHP:0001999
- 8 of 15 reported patients
- VentriculomegalyHPOHP:0002119
- 8 of 15 reported patients
- Autistic behaviorHPOHP:0000729
- 6 of 14 reported patients
- HypotoniaHPOHP:0001252
- 6 of 14 reported patients
- SeizureHPOHP:0001250
- 6 of 14 reported patients
- Abnormal corpus callosum morphologyHPOHP:0001273
- 6 of 15 reported patients
- AtaxiaHPOHP:0001251
- 4 of 14 reported patients
- Motor stereotypyHPOHP:0000733
- 4 of 14 reported patients
- Abnormal vertebral morphologyHPOHP:0003468
- 4 of 15 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 14 reported patients
Show the remaining 6
- Cortical dysplasiaHPOHP:0002539
- 3 of 15 reported patients
- HydrocephalusHPOHP:0000238
- 3 of 15 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 15 reported patients
- Abnormality of neuronal migrationHPOHP:0002269
- 1 of 15 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
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.
- DLL1HGNC:2908
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Moderate · G2P · Autosomal dominant · 2025