Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Delayed language development
Very frequent (80-99%)HP:0000750
Gait disturbance
Very frequent (80-99%)HP:0001288
Hypoglycosylation of alpha-dystroglycan
Very frequent (80-99%)HP:0030046
Mask-like facies
Very frequent (80-99%)HP:0000298
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Muscular dystrophy
Very frequent (80-99%)HP:0003560
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Myopathy
Very frequent (80-99%)HP:0003198
Plagiocephaly
Very frequent (80-99%)HP:0001357
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Epilepsy
Frequent (30-79%)HP:0001250
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Pectus excavatum
Frequent (30-79%)HP:0000767
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Weak cry
Frequent (30-79%)HP:0001612
Wide skull shape
Frequent (30-79%)HP:0000248
Exaggerated acoustic startle response
Occasional (5-29%)HP:0002267
Glaucoma
Occasional (5-29%)HP:0000501
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Lens opacities
Occasional (5-29%)HP:0000518
Optic atrophy
Occasional (5-29%)HP:0000648
Poor vision
Occasional (5-29%)HP:0000505
Retinal dysgenesis
Occasional (5-29%)HP:0007973
Single brain ventricle
Occasional (5-29%)HP:0001360
Small for gestational age infant
Occasional (5-29%)HP:0001511
Turridolichocephaly
Occasional (5-29%)HP:0000268
Absence of corpus callosum
HP:0001274
Quick Facts
- SNOMED CT
- 111502003
- UMLS CUI
- C0410174
- Fully Specified Name
- Fukuyama congenital muscular dystrophy (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.