Chilton-Okur-Chung neurodevelopmental syndrome
MONDO:0859239Mondo
Findings
No curated finding names Chilton-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
- Congenital onset · Neonatal onset · Fetal onset
HPO, annotations 2026-09-02
Features
102 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.
- HypotoniaHPOHP:0001252
- 9 of 12 reported patients
- Autistic behaviorHPOHP:0000729
- 9 of 13 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 14 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 11 reported patients
- CryptorchidismHPOHP:0000028
- 4 of 11 reported patients
- Aggressive behaviorHPOHP:0000718
- 4 of 14 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 12 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 3 of 13 reported patients
- AnxietyHPOHP:0000739
- 3 of 14 reported patients
- MicropenisHPOHP:0000054
- 2 of 12 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 14 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 14 reported patients
Show the remaining 90
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 14 reported patients
- HypertelorismHPOHP:0000316
- 2 of 14 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 14 reported patients
- Limb tremorHPOHP:0200085
- 2 of 14 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 14 reported patients
- Mild fetal ventriculomegalyHPOHP:0010952
- 2 of 14 reported patients · Fetal onset
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.
- CDC42BPBHGNC:1738
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Limited · G2P · Autosomal dominant · 2025