heterotopia, periventricular, X-linked dominant
MONDO:0010233Mondo
Findings
No curated finding names heterotopia, periventricular, X-linked dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Bone marrow maturation arrestHPOHP:0033606
- 1 of 1 reported patient · Male
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient · Male
- Cerebral hemorrhageHPOHP:0001342
- 1 of 1 reported patient · Male
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient · Male
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient · Male
- Short fingerHPOHP:0009381
- 1 of 1 reported patient · Male
- SyndactylyHPOHP:0001159
- 1 of 1 reported patient · Male
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient · Male
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 11 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 3 of 11 reported patients · Female
- StrokeHPOHP:0001297
- 3 of 11 reported patients · Female
- StrabismusHPOHP:0000486
- 2 of 11 reported patients · Congenital onset
Show the remaining 1
- Bicuspid aortic valveHPOHP:0001647
- 1 of 11 reported patients · Female
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.
- FLNAHGNC:3754
- Definitive · Ambry Genetics · X-linked · 2021
- Definitive · Illumina · X-linked · 2019
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: heterotopia, periventricular, X-linked dominant
- Also called
- heterotopia, periventricular, 1, X-linked dominantheterotopia, periventricular, Ehlers-Danlos variant