Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

disorder

SNOMED 724283004CUI C2676244

Overview

Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum 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.

Difficulty articulating speech

Always present (100%)HP:0001260

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Leukodystrophy

Always present (100%)HP:0002415

Psychomotor regression beginning in infancy

Always present (100%)HP:0002376

Dystonic movements

Very frequent (80-99%)HP:0001332

Muscle rigidity

Very frequent (80-99%)HP:0002063

Ataxia

Frequent (30-79%)HP:0001251

Choreoathetosis

Frequent (30-79%)HP:0001266

Delayed motor milestones

Frequent (30-79%)HP:0001270

Speech delay

Frequent (30-79%)HP:0000750

Tremor

Frequent (30-79%)HP:0001337

Hypometric saccades

Occasional (5-29%)HP:0000571

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Muscular hypotonia

Occasional (5-29%)HP:0001252

Oculomotor apraxia

Occasional (5-29%)HP:0000657

Poor vision

Occasional (5-29%)HP:0000505

Seizures

Occasional (5-29%)HP:0001250

Cerebral hypomyelination

HP:0006808

Decreased body height

HP:0004322

Decreased size of cranium

HP:0000252

Difficulty speaking

HP:0002465

Infratentorial atrophy

HP:0001272

Mental-retardation

HP:0001249

Optic atrophy

HP:0000648

Specific learning disability

HP:0001328

Truncal hypotonia

HP:0008936

Related Conditions

Autosomal dominant hereditary disorder(parent)

Disorder of basal ganglia(parent)

Cerebral atrophy(parent)

Cerebellar ataxia(parent)

Hereditary ataxia(parent)

TUBB4A-related leukodystrophy(parent)

Hereditary cerebellar atrophy(parent)

Quick Facts

SNOMED CT: 724283004
UMLS CUI: C2676244
Fully Specified Name: Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.