polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MONDO:0014679Mondo
Findings
No curated finding names polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 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
- Fetal onset
HPO, annotations 2026-09-02
Features
16 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
- 3 of 3 reported patients
- Femoral retroversionHPOHP:0008796
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 3 reported patients
- Perisylvian polymicrogyriaHPOHP:0012650
- 3 of 3 reported patients · Fetal onset
- Talipes equinovarusHPOHP:0001762
- 3 of 3 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 3 reported patients
- DolichocephalyHPOHP:0000268
- 2 of 3 reported patients
- Fetal pyelectasisHPOHP:0010945
- 2 of 3 reported patients
- Knee flexion contractureHPOHP:0006380
- 2 of 3 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 2 of 3 reported patients
- Absent uvulaHPOHP:0010292
- 1 of 3 reported patients
- Overlapping fingersHPOHP:0010557
- 1 of 3 reported patients
Show the remaining 4
- Unilateral wrist flexion contractureHPOHP:0012454
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
- Cerebellar dysplasiaHPOHP:0007033
- Cerebellar hypoplasiaHPOHP:0001321
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.
- PI4KAHGNC:8983
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025