Metachromatic leukodystrophy, congenital type

disorder

SNOMED 40802007CUI C0751278

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Clumsiness

Frequent (30-79%)HP:0002312

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dystonic movements

Frequent (30-79%)HP:0001332

Elevated csf protein

Frequent (30-79%)HP:0002922

EMG: chronic denervation signs

Frequent (30-79%)HP:0003444

Frequent falls

Frequent (30-79%)HP:0002359

Gait ataxia, progressive

Frequent (30-79%)HP:0007240

Hyporeflexia

Frequent (30-79%)HP:0001265

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Leukodystrophy

Frequent (30-79%)HP:0002415

Muscle weakness

Frequent (30-79%)HP:0001324

Neurodevelopmental regression

Frequent (30-79%)HP:0002376

Optic atrophy

Frequent (30-79%)HP:0000648

Progressive polyneuropathy

Frequent (30-79%)HP:0007133

Punctate periventricular T2 hyperintense foci

Frequent (30-79%)HP:0030081

Seizures

Frequent (30-79%)HP:0001250

Urinary incontinence

Frequent (30-79%)HP:0000020

Walking on tiptoes

Frequent (30-79%)HP:0030051

Abdominal swelling

Occasional (5-29%)HP:0003270

Abnormal social interactions

Occasional (5-29%)HP:0012433

Abnormal visual evoked responses

Occasional (5-29%)HP:0000649

Bilateral nerve deafness

Occasional (5-29%)HP:0008619

Decreased visual acuity

Occasional (5-29%)HP:0007663

Delusions

Occasional (5-29%)HP:0000746

Emotional lability

Occasional (5-29%)HP:0000712

Extensor plantar responses

Occasional (5-29%)HP:0003487

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

Gallbladder inflammation

Occasional (5-29%)HP:0001082

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Related Conditions

Metachromatic leukodystrophy(parent)

Quick Facts

SNOMED CT: 40802007
UMLS CUI: C0751278
Fully Specified Name: Metachromatic leukodystrophy, congenital type (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.