From HPO
Abnormality of the cardiovascular system- MedGen UID:
- 116727
- •Concept ID:
- C0243050
- •
- Congenital Abnormality
Any abnormality of the cardiovascular system.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Gowers sign- MedGen UID:
- 65865
- •Concept ID:
- C0234182
- •
- Finding
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Difficulty climbing stairs- MedGen UID:
- 68676
- •Concept ID:
- C0239067
- •
- Finding
Reduced ability to climb stairs.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Difficulty running- MedGen UID:
- 108251
- •Concept ID:
- C0560346
- •
- Finding
Reduced ability to run.
Myotonia- MedGen UID:
- 675119
- •Concept ID:
- C0700153
- •
- Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Proximal lower limb amyotrophy- MedGen UID:
- 373171
- •Concept ID:
- C1836767
- •
- Finding
Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
Muscle fiber necrosis- MedGen UID:
- 376893
- •Concept ID:
- C1850848
- •
- Pathologic Function
Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.
Proximal muscle weakness in lower limbs- MedGen UID:
- 356423
- •Concept ID:
- C1866010
- •
- Finding
A lack of strength of the proximal muscles of the legs.
Neonatal hypotonia- MedGen UID:
- 412209
- •Concept ID:
- C2267233
- •
- Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Skeletal muscle autophagosome accumulation- MedGen UID:
- 1814214
- •Concept ID:
- C5676640
- •
- Finding
Abnormal accumulation of autophagosomes in skeletal muscle tissue.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Limited extraocular movements- MedGen UID:
- 388060
- •Concept ID:
- C1858427
- •
- Finding
Limited mobility of the eye within its socket.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system