Kury-Isidor syndrome
MONDO:0859230Mondo
Findings
No curated finding names Kury-Isidor 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
HPO, annotations 2026-09-02
Features
41 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 speech and language developmentHPOHP:0000750
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Growth delayHPOHP:0001510
- 9 of 11 reported patients
- HypotoniaHPOHP:0001252
- 7 of 11 reported patients
- Motor delayHPOHP:0001270
- 6 of 11 reported patients
- SeizureHPOHP:0001250
- 6 of 11 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 8 reported patients
- Long philtrumHPOHP:0000343
- 4 of 11 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 4 of 11 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 10 reported patients
- Finger syndactylyHPOHP:0006101
- 3 of 11 reported patients
- HypertrichosisHPOHP:0000998
- 3 of 11 reported patients
Show the remaining 29
- StrabismusHPOHP:0000486
- 3 of 11 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 10 reported patients
- AstigmatismHPOHP:0000483
- 2 of 11 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 11 reported patients
- ScoliosisHPOHP:0002650
- 2 of 11 reported patients
- Triangular mouthHPOHP:0000207
- 2 of 11 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.
- BAP1HGNC:950
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
- A kind of