Gillessen-Kaesbach-Nishimura syndrome
MONDO:0009890Mondo
Findings
No curated finding names Gillessen-Kaesbach-Nishimura 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
HPO, annotations 2026-09-02
Features
31 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.
- Abnormal lung lobationHPOHP:0002101
- 4 of 4 reported patients
- Bicornuate uterusHPOHP:0000813
- 3 of 3 reported patients · Female
- Low-set earsHPOHP:0000369
- 10 of 10 reported patients
- Metaphyseal wideningHPOHP:0003016
- 8 of 8 reported patients
- MicrognathiaHPOHP:0000347
- 9 of 9 reported patients
- Narrow greater sciatic notchHPOHP:0003375
- 8 of 8 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 10 of 10 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 9 of 9 reported patients
- RetrognathiaHPOHP:0000278
- 9 of 9 reported patients
- Short long boneHPOHP:0003026
- 10 of 10 reported patients
- Short neckHPOHP:0000470
- 9 of 9 reported patients
- Smooth philtrumHPOHP:0000319
- 10 of 10 reported patients
Show the remaining 19
- Thickened nuchal skin foldHPOHP:0000474
- 9 of 9 reported patients
- Ulnar deviation of the handHPOHP:0009487
- 8 of 8 reported patients
- Polycystic kidney dysplasiaHPOHP:0000113
- 9 of 10 reported patients
- ProptosisHPOHP:0000520
- 8 of 9 reported patients
- Decreased skull ossificationHPOHP:0004331
- 7 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 9 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.
- ALG9HGNC:15672
- Moderate · Ambry Genetics · Autosomal recessive · 2018