X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Findings
No curated finding names X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.
Definition from the Mondo Disease Ontology (MONDO:0010473), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
32 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.
- CardiomegalyHPOHP:0001640
- 2 of 2 reported patients · Middle age onset
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- 2 of 2 reported patients · Middle age onset
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- MacroorchidismHPOHP:0000053
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- MacrotiaHPOHP:0000400
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Profound intellectual disabilityHPOHP:0002187
Show the remaining 20
- HydrocephalusHPOHP:0000238
- 1 of 2 reported patients
- KyphoscoliosisHPOHP:0002751
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- MacrocephalyHPOHP:0000256
- 1 of 2 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- Aortic valve stenosisHPOHP:0001650
- Occasional (5% to 29% of cases)
- Atrial flutterHPOHP:0004749
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.
- CLIC2HGNC:2063
- Moderate · Genomics England PanelApp · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · G2P · X-linked · 2016
- Disputed Evidence · Ambry Genetics · X-linked · 2018
Where it sits
Other names
6 names
Resolves to: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- Also called
- intellectual developmental disorder, X-linked syndromic 32, X-linked recessiveintellectual disability, X-linked, syndromic 32intellectual disability, X-linked, syndromic type 32mental retardation, X-linked, syndromic 32mental retardation, X-linked, syndromic type 32MRXS32