Static encephalopathy of childhood with neurodegeneration in adulthood

disorder

SNOMED 732959007CUI C3550973

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.

Intellectual deterioration

Always present (100%)HP:0001268

Speech and language difficulties

Always present (100%)HP:0000750

Akinesia

Frequent (30-79%)HP:0002304

Autonomic dysregulation

Frequent (30-79%)HP:0012332

Cognitive delay

Frequent (30-79%)HP:0001263

Degeneration of cerebrum

Frequent (30-79%)HP:0002059

Delayed ability to walk

Frequent (30-79%)HP:0031936

Dystonic movements

Frequent (30-79%)HP:0001332

Eye movement issue

Frequent (30-79%)HP:0000496

Iron accumulation in brain

Frequent (30-79%)HP:0012675

Iron accumulation in substantia nigra

Frequent (30-79%)HP:0012678

Muscle rigidity

Frequent (30-79%)HP:0002063

Nonverbal

Frequent (30-79%)HP:0001344

Parkinsonian disease

Frequent (30-79%)HP:0001300

Progressive dementia

Frequent (30-79%)HP:0000726

Progressive encephalopathy

Frequent (30-79%)HP:0002448

Tremor

Frequent (30-79%)HP:0001337

Trouble sleeping

Frequent (30-79%)HP:0002360

Abnormal postural reaction

Occasional (5-29%)HP:0033329

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Optic atrophy

Occasional (5-29%)HP:0000648

physical aggression

Occasional (5-29%)HP:0000718

Seizures

Occasional (5-29%)HP:0001250

Degeneration of cerebellum

HP:0001272

Eye of the tiger anomaly of globus pallidus

Excluded (<1%)HP:0002454

Frontal release signs

HP:0000743

Mental deficiency

HP:0001249

Neurodegeneration

HP:0002180

Problems speaking

HP:0002465

Slowness of movements

HP:0002067

Related Conditions

Iron overload(parent)

X-linked hereditary disease(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 732959007
UMLS CUI: C3550973
Fully Specified Name: Beta-propeller protein-associated neurodegeneration (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.