fetal akinesia deformation sequence 2
MONDO:0100102Mondo
Findings
No curated finding names fetal akinesia deformation sequence 2 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
17 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.
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients · Fetal onset
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
- 2 of 2 reported patients · Fetal onset
- High palateHPOHP:0000218
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 2 of 2 reported patients
- Tented upper lip vermilionHPOHP:0010804
- 2 of 2 reported patients
Show the remaining 5
- Wide nasal bridgeHPOHP:0000431
- 2 of 2 reported patients
- Cleft palateHPOHP:0000175
- 1 of 2 reported patients
- Weak cryHPOHP:0001612
- 1 of 2 reported patients
- Broad neckHPOHP:0000475
- Fetal akinesia sequenceHPOHP:0001989
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.
- RAPSNHGNC:9863
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: fetal akinesia deformation sequence 2
- Also called
- FADS2