Pelizaeus Merzbacher like disease due to HSPD1 mutation

disorder

SNOMED 870284000CUI C2677109

Overview

Pelizaeus Merzbacher like disease due to HSPD1 mutation 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.

Central hypotonia

Always present (100%)HP:0001252

Cognitive delay

Always present (100%)HP:0001263

Delay in head control

Always present (100%)HP:0002421

Extensor plantar responses

Always present (100%)HP:0003487

Feeding difficulties in infancy

Always present (100%)HP:0008872

Head titubation

Always present (100%)HP:0002599

Increased reflexes

Always present (100%)HP:0001347

Leukodystrophy

Always present (100%)HP:0002415

Postnatal microcephaly

Always present (100%)HP:0005484

Spastic paraplegia

Always present (100%)HP:0001258

Spasticity, progressive

Always present (100%)HP:0002191

Squint

Always present (100%)HP:0000486

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Apnea

Frequent (30-79%)HP:0002104

Ethylmalonic aciduria

Frequent (30-79%)HP:0003219

Increased blood lactate

Frequent (30-79%)HP:0002151

Seizures

Frequent (30-79%)HP:0001250

Choreoathetoid movements

HP:0001266

Flexion contractures

HP:0001371

Intellectual disability, profound

HP:0002187

Related Conditions

Pelizaeus Merzbacher like disease(parent)

Quick Facts

SNOMED CT: 870284000
UMLS CUI: C2677109
Fully Specified Name: Pelizaeus Merzbacher like disease due to HSPD1 mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.