Lab test results

9

Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentration, Increased circulating IgG concentration

Muscles

7

Flexion contracture, Flexion contracture of finger, Muscle weakness

Arms and legs

6

Camptodactyly of finger, Flexion contracture of finger, Long fingers

Digestive system

5

Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Enlarged liver (hepatomegaly), Chronic constipation

Skin

5

Hyperpigmentation of the skin, Erythema nodosum, Skin plaque

Growth and development

4

Short stature, Failure to thrive, Growth abnormality

Blood and immune system

4

Small red blood cells (microcytic anemia), Recurrent upper respiratory tract infections, Enlarged spleen (splenomegaly)

Brain and nerves

3

Mild intellectual disability, Seizure, Intellectual disability

Head and neck

3

Progeroid facial appearance, Loss of facial adipose tissue, Thick lower lip vermilion

Bones and joints

3

Skeletal muscle atrophy, Arthralgia, Bone pain

Heart and blood vessels

3

Arrhythmia, Enlarged heart (cardiomegaly), Congestive heart failure

Eyes

2

Conjunctivitis, Punctate opacification of the cornea

Ears

1

Recurrent otitis media

Lungs and breathing

1

Recurrent upper respiratory tract infections

Metabolism

1

Recurrent fever

Hormones

1

Elevated circulating thyroid-stimulating hormone concentration