Leukoencephalopathy, palmoplantar keratoderma syndrome

disorder

SNOMED 771184001CUI C4749769

Overview

Leukoencephalopathy, palmoplantar keratoderma syndrome 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.

Cognitive deficits

Always present (100%)HP:0100543

Palmoplantar keratosis

Always present (100%)HP:0000972

Spasticity and rigidity of muscles

Always present (100%)HP:0001276

Unsteady walk

Always present (100%)HP:0002317

EEG: generalized slow activity

Very frequent (80-99%)HP:0010845

Progressive dementia

Very frequent (80-99%)HP:0000726

Pseudobulbar symptoms

Very frequent (80-99%)HP:0002200

Quadriparesis

Very frequent (80-99%)HP:0002273

Clumsiness

Frequent (30-79%)HP:0002312

Diaphyseal dysplasia

Frequent (30-79%)HP:0100252

Muscle weakness

Frequent (30-79%)HP:0001324

Papules

Frequent (30-79%)HP:0200034

Slurred speech

Frequent (30-79%)HP:0001350

Walking on tiptoes

Frequent (30-79%)HP:0030051

Decreased number of large and small myelinated fibres

Occasional (5-29%)HP:0003380

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Related Conditions

Leukoencephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Punctate palmoplantar keratoderma(parent)

Hereditary disorder of nervous system(parent)

Inherited disorder of keratinization(parent)

Quick Facts

SNOMED CT: 771184001
UMLS CUI: C4749769
Fully Specified Name: Leukoencephalopathy, palmoplantar keratoderma syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.