arthrogryposis, distal, with impaired proprioception and touch
MONDO:0014941Mondo
Findings
No curated finding names arthrogryposis, distal, with impaired proprioception and touch 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
18 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.
- AreflexiaHPOHP:0001284
- 9 of 9 reported patients
- DysarthriaHPOHP:0001260
- 7 of 7 reported patients
- Motor delayHPOHP:0001270
- 10 of 10 reported patients · Infantile onset
- Neonatal hypotoniaHPOHP:0001319
- 8 of 8 reported patients · Congenital onset
- Respiratory insufficiencyHPOHP:0002093
- 6 of 6 reported patients · Neonatal onset
- ScoliosisHPOHP:0002650
- 10 of 10 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 8 of 9 reported patients
- Short statureHPOHP:0004322
- 8 of 9 reported patients
- Pes planusHPOHP:0001763
- 6 of 7 reported patients
- Sandal gapHPOHP:0001852
- 7 of 9 reported patients
- Upper limb muscle weaknessHPOHP:0003484
- 5 of 8 reported patients
- CamptodactylyHPOHP:0012385
- 6 of 10 reported patients
Show the remaining 6
- ArachnodactylyHPOHP:0001166
- 4 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 9 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 5 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 11 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 11 reported patients
- Myopathic faciesHPOHP:0002058
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.
- PIEZO2HGNC:26270
- Definitive · Illumina · Autosomal recessive · 2020
- Definitive · Illumina · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
2 names
Resolves to: arthrogryposis, distal, with impaired proprioception and touch
- Also called
- arthrogryposis, distal, with impaired proprioception and touch; DAIPTDAIPT