Hypomyelination neuropathy arthrogryposis syndrome

disorder

SNOMED 766931003CUI C4707882

Overview

Hypomyelination neuropathy arthrogryposis 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.

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Central hypotonia

Very frequent (80-99%)HP:0001252

Diminished deep tendon reflexes

Very frequent (80-99%)HP:0001315

Laboured breathing

Very frequent (80-99%)HP:0002098

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Related Conditions

Neuropathy(parent)

Inherited arthrogryposis(parent)

Congenital anomaly of nervous system(parent)

Hereditary disorder of nervous system(parent)

Recessive hereditary disorder (autosomal)(parent)

Arthrogryposis multiplex congenita(parent)

Quick Facts

SNOMED CT: 766931003
UMLS CUI: C4707882
Fully Specified Name: Hypomyelination neuropathy arthrogryposis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.