lessel-kubisch syndrome
MONDO:0032868Mondo
Findings
No curated finding names lessel-kubisch syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Abnormally high-pitched voiceHPOHP:0001620
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- HypogonadismHPOHP:0000135
- 1 of 1 reported patient
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- Narrow nasal bridgeHPOHP:0000446
- 1 of 1 reported patient
- Premature graying of hairHPOHP:0002216
- 1 of 1 reported patient
- Renal hypoplasiaHPOHP:0000089
- 1 of 1 reported patient
- Renal insufficiencyHPOHP:0000083
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Sparse pubic hairHPOHP:0002225
- 1 of 1 reported patient
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.
- MDM2HGNC:6973
- Moderate · LiferaOmics · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of