Okur-Chung neurodevelopmental syndrome
MONDO:0014893Mondo
Findings
No curated finding names Okur-Chung neurodevelopmental syndrome 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
HPO, annotations 2026-09-02
Features
46 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 ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 4 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 5 reported patients
- ConstipationHPOHP:0002019
- 3 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 5 reported patients
- PachygyriaHPOHP:0001302
- 3 of 5 reported patients
- AtaxiaHPOHP:0001251
- 2 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 5 reported patients
- EpicanthusHPOHP:0000286
- 2 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 5 reported patients
Show the remaining 34
- Feeding difficultiesHPOHP:0011968
- 2 of 5 reported patients
- Frequent temper tantrumsHPOHP:0025161
- 2 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 5 reported patients
- Low-set earsHPOHP:0000369
- 2 of 5 reported patients
- Overfolded helixHPOHP:0000396
- 2 of 5 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.
- CSNK2A1HGNC:2457
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Okur-Chung neurodevelopmental syndrome
- Also called
- OCNDSOkur-Chung neurodevelopmental syndrome; OCNDS