White-Kernohan syndrome
MONDO:0859169Mondo
Findings
No curated finding names White-Kernohan 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 · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
45 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.
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 7 of 8 reported patients
- Full cheeksHPOHP:0000293
- 5 of 8 reported patients
- MacrotiaHPOHP:0000400
- 5 of 8 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 8 reported patients
- Short noseHPOHP:0003196
- 4 of 8 reported patients
- EpicanthusHPOHP:0000286
- 3 of 8 reported patients
- Horizontal eyebrowHPOHP:0011228
- 3 of 8 reported patients
- Anteriorly placed anusHPOHP:0001545
- 2 of 8 reported patients
- Broad medial eyebrowHPOHP:0034003
- 2 of 8 reported patients
- Epicanthus inversusHPOHP:0000537
- 2 of 8 reported patients
- Horseshoe kidneyHPOHP:0000085
- 2 of 8 reported patients
Show the remaining 33
- Long eyelashesHPOHP:0000527
- 2 of 8 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 8 reported patients
- ObesityHPOHP:0001513
- 2 of 8 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 8 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 8 reported patients
- SynophrysHPOHP:0000664
- 2 of 8 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.
- DDB1HGNC:2717
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of