ventriculomegaly and arthrogryposis
MONDO:0859184Mondo
Findings
No curated finding names ventriculomegaly 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
8 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 · Fetal onset
- VentriculomegalyHPOHP:0002119
- 4 of 4 reported patients · Fetal onset
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 3 reported patients · Fetal onset
- Hand clenchingHPOHP:0001188
- 2 of 3 reported patients · Fetal onset
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 3 reported patients · Fetal onset
- MicrognathiaHPOHP:0000347
- 1 of 3 reported patients · Fetal onset
- Talipes equinovarusHPOHP:0001762
- 1 of 3 reported patients · Fetal onset
- Ulnar deviation of the wristHPOHP:0003049
- 1 of 3 reported patients · Fetal onset
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.
- KIDINS220HGNC:29508
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of