Cornelia de Lange syndrome 2
Findings
No curated finding names Cornelia de Lange syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.
Definition from the Mondo Disease Ontology (MONDO:0010370), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Highly arched eyebrowHPOHP:0002553
- Intellectual disabilityHPOHP:0001249
- Intrauterine growth retardationHPOHP:0001511
- MicrocephalyHPOHP:0000252
- Short statureHPOHP:0004322
- Smooth philtrumHPOHP:0000319
- SynophrysHPOHP:0000664
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.
- SMC1AHGNC:11111
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: Cornelia de Lange syndrome 2
- Also called
- Cornelia de Lange syndrome 2, X-linked dominantCornelia de Lange syndrome caused by mutation in SMC1ACornelia De Lange syndrome type 2SMC1A Cornelia de Lange syndromeX-linked Cornelia De Lange syndrome