Brain and nerves

6

Seizure, Cerebral visual impairment, Aggressive behavior

Arms and legs

5

Toe syndactyly, Shortening of all distal phalanges of the fingers, Limb undergrowth

Muscles

4

Hip contracture, Axial hypotonia, Knee flexion contracture

Eyes

3

Cerebral visual impairment, Developmental cataract, Visual impairment

Digestive system

3

Vomiting, Feeding difficulties, Abdominal pain

Kidneys and urinary system

2

Abnormal renal collecting system morphology, Hyperechogenic kidneys

Lab test results

2

Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating alkaline phosphatase concentration

Lungs and breathing

1

Chronic lung disease

Pregnancy and birth

1

Echogenic fetal bowel

Bones and joints

1

Mild bone density loss (osteopenia)

Head and neck

1

High palate

Growth and development

1

Growth delay