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Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome

disorder
SNOMED 770679002CUI C4749397

Overview

Polyneuropathy, intellectual disability, acromicria, premature menopause 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
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased nerve conduction velocity
Very frequent (80-99%)HP:0000762
Diminished deep tendon reflexes
Very frequent (80-99%)HP:0001315
Gait disturbance
Very frequent (80-99%)HP:0001288
Micromelia
Very frequent (80-99%)HP:0002983
Muscle weakness
Very frequent (80-99%)HP:0001324
Poor school performance
Very frequent (80-99%)HP:0001249
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Truncal obesity
Frequent (30-79%)HP:0001956
Ulnar Drift
Frequent (30-79%)HP:0009465
Abnormality of pelvic girdle bone morphology
Occasional (5-29%)HP:0002644
Cardiac arrhythmias
Occasional (5-29%)HP:0011675
Lingua plicata
Occasional (5-29%)HP:0000221

Related Conditions

Micromelia(parent)
Premature ovarian failure(parent)
Polyneuropathy(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
770679002
UMLS CUI
C4749397
Fully Specified Name
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
15
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.