Athabaskan brainstem dysgenesis syndrome

disorder

SNOMED 720518006CUI C1832215

Overview

Athabaskan brainstem dysgenesis syndrome 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.

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Central hypoventilation

Frequent (30-79%)HP:0007110

Delayed gross motor development

Frequent (30-79%)HP:0002194

Hypotrophic internal carotid artery

Frequent (30-79%)HP:0005290

Seizures

Occasional (5-29%)HP:0001250

Globe retraction and deviation on adduction

HP:0009921

Horizontal supranuclear gaze palsy

HP:0007817

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Dysgenesis of the brainstem(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720518006
UMLS CUI: C1832215
Fully Specified Name: Athabaskan brainstem dysgenesis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.