polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
MONDO:0032688Mondo
Findings
No curated finding names polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 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
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.
- Atypical scarring of skinHPOHP:0000987
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient
- Cortical dysplasiaHPOHP:0002539
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Dermal translucencyHPOHP:0010648
- 1 of 1 reported patient
- Gingival recessionHPOHP:0030816
- 1 of 1 reported patient
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- Premature rupture of membranesHPOHP:0001788
- 1 of 1 reported patient
- Pulmonic stenosisHPOHP:0001642
- 1 of 1 reported patient
- Smooth philtrumHPOHP:0000319
- 1 of 1 reported patient
- Typical absence seizureHPOHP:0011147
- 1 of 1 reported patient
Show the remaining 4
- Underdeveloped nasal alaeHPOHP:0000430
- 1 of 1 reported patient
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 1 reported patient
- Varicose veinsHPOHP:0002619
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
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.
- COL3A1HGNC:2201
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
- Also called
- polymicrogyria with or without vascular-type EDSvascular Ehlers-Danlos-polymicrogyria syndrome