lethal congenital contracture syndrome 7
Findings
No curated finding names lethal congenital contracture syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014569), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Third trimester onset
HPO, annotations 2026-09-02
Features
3 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.
- Distal arthrogryposisHPOHP:0005684
- 4 of 4 reported patients
- Fetal akinesia sequenceHPOHP:0001989
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 4 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.
- CNTNAP1HGNC:8011
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2016
Where it sits
Other names
3 names
Resolves to: lethal congenital contracture syndrome 7
- Also called
- CNTNAP1 lethal congenital contracture syndromelethal congenital contracture syndrome caused by mutation in CNTNAP1lethal congenital contracture syndrome type 7