fetal akinesia deformation sequence 4
MONDO:0100104Mondo
Findings
No curated finding names fetal akinesia deformation sequence 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death · Second trimester onset · Prenatal death
HPO, annotations 2026-09-02
Features
19 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 5 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 5 of 5 reported patients
- High palateHPOHP:0000218
- 3 of 3 reported patients
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 3 of 3 reported patients
- RetrognathiaHPOHP:0000278
- 3 of 3 reported patients
- Wide nasal bridgeHPOHP:0000431
- 4 of 4 reported patients
- 11 pairs of ribsHPOHP:0000878
- 2 of 3 reported patients
- CamptodactylyHPOHP:0012385
- 3 of 5 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 3 of 5 reported patients
Show the remaining 7
- PolyhydramniosHPOHP:0001561
- 2 of 5 reported patients
- Broad neckHPOHP:0000475
- 1 of 3 reported patients
- Short neckHPOHP:0000470
- 1 of 3 reported patients
- Absence of stomach bubble on fetal sonographyHPOHP:0010963
- 1 of 5 reported patients
- Fetal pleural effusionHPOHP:0025676
- 1 of 5 reported patients
- KyphosisHPOHP:0002808
- 1 of 5 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.
- NUP88HGNC:8067
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: fetal akinesia deformation sequence 4
- Also called
- FADS4