From HPO
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).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Increased hepatic glycogen content- MedGen UID:
- 344698
- •Concept ID:
- C1856285
- •
- Finding
An increase in the amount of glycogen stored in hepatocytes compared to normal.
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.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Hyperuricemia- MedGen UID:
- 149260
- •Concept ID:
- C0740394
- •
- Disease or Syndrome
An abnormally high level of uric acid in the blood.
Increased muscle glycogen content- MedGen UID:
- 409660
- •Concept ID:
- C1968729
- •
- Finding
An increased amount of glycogen in muscle tissue.
Reduced hepatic phosphorylase kinase activity- MedGen UID:
- 1054423
- •Concept ID:
- CN377142
- •
- Finding
Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Growth abnormality