fetal akinesia deformation sequence 1
MONDO:0100101Mondo
Findings
No curated finding names fetal akinesia deformation sequence 1 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
- Congenital onset
HPO, annotations 2026-09-02
Features
36 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.
- Congenital contractureHPOHP:0002803
- 5 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- 13 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Wrist flexion contractureHPOHP:0001239
- 12 of 12 reported patients
- Decreased fetal movementHPOHP:0001558
- 6 of 7 reported patients
- PolyhydramniosHPOHP:0001561
- 11 of 13 reported patients
- Frequent (30% to 79% of cases)
- Absent palmar creaseHPOHP:0010489
- Very frequent (80% to 99% of cases)
- AkinesiaHPOHP:0002304
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Very frequent (80% to 99% of cases)
- Fetal akinesia sequenceHPOHP:0001989
- Very frequent (80% to 99% of cases)
Show the remaining 24
- HypokinesiaHPOHP:0002375
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- 2 of 12 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 8 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Multiple joint contracturesHPOHP:0002828
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- Hip contractureHPOHP:0003273
Genes
6 genes
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.
- MUSKHGNC:7525
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- DOK7HGNC:26594
- Supportive · Orphanet · Autosomal recessive · 2021
- MYOD1HGNC:7611
- Supportive · Orphanet · Autosomal recessive · 2021
- NUP88HGNC:8067
- Supportive · Orphanet · Autosomal recessive · 2021
- RAPSNHGNC:9863
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: fetal akinesia deformation sequence 1
- Also called
- FADS1Pena-Shokeir syndrome type 1Pena-Shokeir syndrome, type 1