Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Proximal neurogenic muscle weakness
Always present (100%)HP:0003701
Decreased amniotic fluid index
Frequent (30-79%)HP:0001562
Decreased fetal movement
Frequent (30-79%)HP:0001558
Delayed motor milestones
Frequent (30-79%)HP:0001270
Difficulty running
Frequent (30-79%)HP:0009046
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Facial muscle weakness of muscles innervated by CN VII
Frequent (30-79%)HP:0010628
Flexion contractures
Frequent (30-79%)HP:0001371
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
High arched palate
Frequent (30-79%)HP:0000218
Muscle atrophy, generalised
Frequent (30-79%)HP:0003700
Progressive muscle weakness
Frequent (30-79%)HP:0003323
Respiratory function loss
Frequent (30-79%)HP:0002093
Retrognathia
Frequent (30-79%)HP:0000278
Small for gestational age infant
Frequent (30-79%)HP:0001511
Areflexia
Occasional (5-29%)HP:0001284
Bilateral facial weakness
Occasional (5-29%)HP:0001349
Cavus foot
Occasional (5-29%)HP:0001761
Central nuclei
Occasional (5-29%)HP:0003687
Deformity of face
Occasional (5-29%)HP:0001999
Delayed language development
Occasional (5-29%)HP:0000750
EMG: decrement at repetitive stimulation
Occasional (5-29%)HP:0003403
Extraocular muscle palsy
Occasional (5-29%)HP:0000597
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Fetal foot inversion
Occasional (5-29%)HP:0001762
Flexion contractures of hips
Occasional (5-29%)HP:0003273
Left ventricular wall hypertrophy
Occasional (5-29%)HP:0001712
Long fingers
Occasional (5-29%)HP:0100807
Mental retardation, mild
Occasional (5-29%)HP:0001256
Narrow mouth
Occasional (5-29%)HP:0000160
Related Conditions
Quick Facts
- SNOMED CT
- 240081004
- UMLS CUI
- C0410204
- Fully Specified Name
- Autosomal recessive centronuclear myopathy (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.