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Start free with EleplanCongenital multicore myopathy with external ophthalmoplegia
ORPHA:98905Clinical subtype
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Signs and symptoms
Common30–79%
19- Abnormal respiratory system physiology
- Abnormal skeletal muscle morphology
- Axial muscle weakness
- Decreased fetal movement
- External ophthalmoplegia
- Facial palsy
- Feeding difficulties
- Generalized hypotonia
- Increased connective tissue
- Increased variability in muscle fiber diameter
- Internally nucleated skeletal muscle fibers
- Motor delay
- Muscle fiber hypertrophy
- Muscle weakness
- Muscular dystrophy
- Myopathic facies
- Proximal muscle weakness
- Type 1 muscle fiber atrophy
- Type 1 muscle fiber predominance
Sometimes5–29%
25- Cryptorchidism
- Difficulty running
- Edema
- Facial diplegia
- Flexion contracture
- Frog-leg posture
- High palate
- Joint hypermobility
and 17 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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