neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
MONDO:0032755Mondo
Findings
No curated finding names neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 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 · Childhood onset
HPO, annotations 2026-09-02
Features
48 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
- 13 of 13 reported patients
- Intellectual disabilityHPOHP:0001249
- 13 of 13 reported patients
- HypotoniaHPOHP:0001252
- 9 of 13 reported patients
- Generalized-onset seizureHPOHP:0002197
- 4 of 13 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 4 of 13 reported patients
- SpasticityHPOHP:0001257
- 4 of 13 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 13 reported patients
- Cerebral atrophyHPOHP:0002059
- 3 of 13 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 13 reported patients
- AtaxiaHPOHP:0001251
- 2 of 13 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 13 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 2 of 13 reported patients
Show the remaining 36
- Perisylvian polymicrogyriaHPOHP:0012650
- 2 of 13 reported patients
- ScoliosisHPOHP:0002650
- 4 of 26 reported patients
- Short statureHPOHP:0004322
- 2 of 13 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 13 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 13 reported patients
- Compulsive behaviorsHPOHP:0000722
- 1 of 13 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.
- MAPK8IP3HGNC:6884
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2019
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2019