VPS11-related autosomal recessive hypomyelinating leukodystrophy

disorder

SNOMED 1187249005CUI C5568878

Overview

VPS11-related autosomal recessive hypomyelinating leukodystrophy 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.

Cortical blindness

Very frequent (80-99%)HP:0100704

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Epilepsy

Very frequent (80-99%)HP:0001250

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Abnormality of the periventricular white matter

Frequent (30-79%)HP:0002518

Autonomic dysregulation

Frequent (30-79%)HP:0012332

Constipation

Frequent (30-79%)HP:0002019

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Difficulty speaking

Frequent (30-79%)HP:0002465

Diffuse white matter abnormalities

Frequent (30-79%)HP:0007204

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Febrile seizure (within the age range of 3 months to 6 years)

Frequent (30-79%)HP:0002373

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Lack of bladder control due to nervous system injury

Frequent (30-79%)HP:0000011

Multiple joint contractures

Frequent (30-79%)HP:0002828

Nonverbal

Frequent (30-79%)HP:0001344

Optic atrophy

Frequent (30-79%)HP:0000648

Oromotor apraxia

Frequent (30-79%)HP:0007301

Retarded growth

Frequent (30-79%)HP:0001510

Sensorineural deafness

Frequent (30-79%)HP:0000407

Infratentorial atrophy

Very rare (1-4%)HP:0001272

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Leucodystrophy(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1187249005
UMLS CUI: C5568878
Fully Specified Name: VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.