fetal akinesia deformation sequence 3
MONDO:0100103Mondo
Findings
No curated finding names fetal akinesia deformation sequence 3 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
8 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.
- Downslanted palpebral fissuresHPOHP:0000494
- Fetal akinesia sequenceHPOHP:0001989
- Generalized edemaHPOHP:0007430
- MicrognathiaHPOHP:0000347
- Overlapping fingersHPOHP:0010557
- Rocker bottom footHPOHP:0001838
- Short neckHPOHP:0000470
- TalipesHPOHP:0001883
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.
- DOK7HGNC:26594
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: fetal akinesia deformation sequence 3
- Also called
- FADS3