From HPO
Scapular winging- MedGen UID:
- 66822
- •Concept ID:
- C0240953
- •
- Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Distal lower limb muscle weakness- MedGen UID:
- 324514
- •Concept ID:
- C1836450
- •
- Finding
Reduced strength of the distal musculature of the legs.
Distal upper limb muscle weakness- MedGen UID:
- 461970
- •Concept ID:
- C3150620
- •
- Finding
Reduced strength of the distal musculature of the arms.
Cardiomyopathy- MedGen UID:
- 209232
- •Concept ID:
- C0878544
- •
- Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Myofiber disarray- MedGen UID:
- 1615672
- •Concept ID:
- C3671015
- •
- Finding
A nonparallel arrangement of cardiac myocytes.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Centrally nucleated skeletal muscle fibers- MedGen UID:
- 330782
- •Concept ID:
- C1842170
- •
- Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Increased variability in muscle fiber diameter- MedGen UID:
- 336019
- •Concept ID:
- C1843700
- •
- Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Rimmed vacuoles- MedGen UID:
- 340089
- •Concept ID:
- C1853932
- •
- Finding
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
Proximal muscle weakness in lower limbs- MedGen UID:
- 356423
- •Concept ID:
- C1866010
- •
- Finding
A lack of strength of the proximal muscles of the legs.
Proximal muscle weakness in upper limbs- MedGen UID:
- 356424
- •Concept ID:
- C1866012
- •
- Finding
A lack of strength of the proximal muscles of the arms.
Fatty replacement of skeletal muscle- MedGen UID:
- 866735
- •Concept ID:
- C4021082
- •
- Finding
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Muscle fiber cytoplasmatic inclusion bodies- MedGen UID:
- 867767
- •Concept ID:
- C4022157
- •
- Finding
The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.
Respiratory insufficiency due to muscle weakness- MedGen UID:
- 812797
- •Concept ID:
- C3806467
- •
- Finding
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the ear
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system