Luscan-Lumish syndrome
MONDO:0014791Mondo
Findings
No curated finding names Luscan-Lumish syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Aggressive behaviorHPOHP:0000718
- Delayed speech and language developmentHPOHP:0000750
- Excessive shynessHPOHP:0100962
- High anterior hairlineHPOHP:0009890
- High foreheadHPOHP:0000348
- HirsutismHPOHP:0001007
- Irregular menstruationHPOHP:0000858
- Long faceHPOHP:0000276
- Long footHPOHP:0001833
- Long noseHPOHP:0003189
- Malar flatteningHPOHP:0000272
- Mandibular prognathiaHPOHP:0000303
Show the remaining 7
- ObesityHPOHP:0001513
- OvergrowthHPOHP:0001548
- Pointed chinHPOHP:0000307
- Polycystic ovariesHPOHP:0000147
- Prominent foreheadHPOHP:0011220
- Slurred speechHPOHP:0001350
- VentriculomegalyHPOHP:0002119
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.
- SETD2HGNC:18420
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: Luscan-Lumish syndrome
- Also called
- LLSLuscan-Lumish syndrome; LLsSETD2-related overgrowth syndrome