From HPO
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
Exercise intolerance- MedGen UID:
- 603270
- •Concept ID:
- C0424551
- •
- Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
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.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Fasciculations- MedGen UID:
- 5124
- •Concept ID:
- C0015644
- •
- Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Easy fatigability- MedGen UID:
- 373253
- •Concept ID:
- C1837098
- •
- Finding
Increased susceptibility to fatigue.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
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.
Neck muscle weakness- MedGen UID:
- 66808
- •Concept ID:
- C0240479
- •
- Finding
Decreased strength of the neck musculature.
Difficulty walking- MedGen UID:
- 86319
- •Concept ID:
- C0311394
- •
- Finding
Reduced ability to walk (ambulate).
Difficulty running- MedGen UID:
- 108251
- •Concept ID:
- C0560346
- •
- Finding
Reduced ability to run.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Chronic pancreatitis- MedGen UID:
- 101753
- •Concept ID:
- C0149521
- •
- Disease or Syndrome
A chronic form of pancreatitis.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
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.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Increased muscle lipid content- MedGen UID:
- 373292
- •Concept ID:
- C1837262
- •
- Finding
An abnormal accumulation of lipids in skeletal muscle.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Ichthyosis- MedGen UID:
- 7002
- •Concept ID:
- C0020757
- •
- Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Ear malformation
- Growth abnormality