Progressive bulbar palsy with sensorineural deafness

disorder

SNOMED 699866005CUI C4551777

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.

Abnormality of the cranial nerves

Very frequent (80-99%)HP:0001291

Bulbar palsies

Very frequent (80-99%)HP:0001283

Cranial nerve paralysis

Very frequent (80-99%)HP:0006824

Progressive hearing loss

Very frequent (80-99%)HP:0001730

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Eye movement issue

Frequent (30-79%)HP:0000496

Eyelid ptosis

Frequent (30-79%)HP:0000508

Facial palsy

Frequent (30-79%)HP:0010628

Hyporeflexia

Frequent (30-79%)HP:0001265

Jerking

Frequent (30-79%)HP:0001336

Limb muscle weakness

Frequent (30-79%)HP:0003690

Muscle weakness

Frequent (30-79%)HP:0001324

Neurogenic muscle atrophy, especially in the lower limbs

Frequent (30-79%)HP:0003202

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Respiratory insufficiency

Frequent (30-79%)HP:0002093

Ataxia

Occasional (5-29%)HP:0001251

Autonomic dysregulation

Occasional (5-29%)HP:0012332

Cachexia

Occasional (5-29%)HP:0004326

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Decreased activity of gonads

Occasional (5-29%)HP:0000135

Diabetes insipidus

Occasional (5-29%)HP:0000873

Epilepsy

Occasional (5-29%)HP:0001250

Gynaecomastia

Occasional (5-29%)HP:0000771

High blood pressure

Occasional (5-29%)HP:0000822

Iris hypopigmentation

Occasional (5-29%)HP:0007730

Loss in color vision

Occasional (5-29%)HP:0000551

Macular pigmentary changes

Occasional (5-29%)HP:0008002

Mental-retardation

Occasional (5-29%)HP:0001249

Optic disc pallor

Occasional (5-29%)HP:0000543

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Progressive bulbar palsy(parent)

Sensorineural hearing loss(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 699866005
UMLS CUI: C4551777
Fully Specified Name: Progressive bulbar palsy with sensorineural deafness (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.