FLNA-related X-linked myxomatous valvular dysplasia

disorder

SNOMED 1186709006CUI C0262436

Overview

FLNA-related X-linked myxomatous valvular dysplasia is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Mitral regurgitation

Very frequent (80-99%)HP:0001653

Puolmonary valve insufficiency

Very frequent (80-99%)HP:0010444

Tricuspid regurgitation

Very frequent (80-99%)HP:0005180

Aortic valve regurgitation

Frequent (30-79%)HP:0001659

Mitral valve prolapse

Frequent (30-79%)HP:0001634

Bicuspid aortic valve

Occasional (5-29%)HP:0001647

Fallen arches

Occasional (5-29%)HP:0001763

Loose-jointedness

Occasional (5-29%)HP:0001382

Moderate myopia

Occasional (5-29%)HP:0031624

Narrow palate

Occasional (5-29%)HP:0000189

Bilateral ptosis

Very rare (1-4%)HP:0001488

Cobb angle greater than ten degrees

Very rare (1-4%)HP:0002650

Dilated right atrium

Very rare (1-4%)HP:0030718

Eyelid ptosis

Very rare (1-4%)HP:0000508

Generalised decreased muscle tone

Very rare (1-4%)HP:0001290

Hypoplasia of corpus callosum

Very rare (1-4%)HP:0002079

Hypoplastic mandible

Very rare (1-4%)HP:0000347

Increased distance between eyes

Very rare (1-4%)HP:0000316

Increased height of lower lip vermilion

Very rare (1-4%)HP:0000179

Increased length of philtrum

Very rare (1-4%)HP:0000343

Loose skin

Very rare (1-4%)HP:0000973

Panting

Very rare (1-4%)HP:0002094

PDA

Very rare (1-4%)HP:0001643

Pectus excavatum

Very rare (1-4%)HP:0000767

Periventricular nodular heterotopia

Very rare (1-4%)HP:0032388

Prominent lips

Very rare (1-4%)HP:0012471

Prominent supraorbital margins

Very rare (1-4%)HP:0000336

Skin hyperelasticity

Very rare (1-4%)HP:0000974

Stiff joint

Very rare (1-4%)HP:0001387

Chronic heart failure

HP:0001635

Related Conditions

X-linked recessive hereditary disease(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Myxoid transformation of cardiac valve(parent)

Cardiac valvular malformation(parent)

Abnormality of atrioventricular (non-mitral, non-tricuspid) valve(parent)

Quick Facts

SNOMED CT: 1186709006
UMLS CUI: C0262436
Fully Specified Name: Filamin A-related X-linked myxomatous valvular dysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.