neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
MONDO:0014857Mondo
Findings
No curated finding names neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 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
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
105 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.
- AnisometropiaHPOHP:0012803
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Autistic behaviorHPOHP:0000729
- 10 of 10 reported patients
- Occasional (5% to 29% of cases)
- Broad thumbHPOHP:0011304
- 2 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- ChordeeHPOHP:0000041
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Optic nerve hypoplasiaHPOHP:0000609
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Renal hypoplasiaHPOHP:0000089
- 1 of 1 reported patient
Show the remaining 93
- Single transverse palmar creaseHPOHP:0000954
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 6 of 8 reported patients
- Occasional (5% to 29% of cases)
- Reduced cerebral white matter volumeHPOHP:0034295
- 6 of 8 reported patients
- Thin corpus callosumHPOHP:0033725
- 6 of 8 reported patients
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
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.
- REREHGNC:9965
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- Also called
- NEDBEHneurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEHrere-related neurodevelopmental syndrome