Yoon-Bellen neurodevelopmental syndrome
MONDO:0859221Mondo
Findings
No curated finding names Yoon-Bellen neurodevelopmental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
28 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.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 8 of 9 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 9 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 9 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 9 reported patients
- High palateHPOHP:0000218
- 2 of 9 reported patients
Show the remaining 16
- NystagmusHPOHP:0000639
- 2 of 9 reported patients
- ScoliosisHPOHP:0002650
- 2 of 9 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 10 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 5 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 9 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 9 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.
- OGDHLHGNC:25590
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of