Arms and legs

10

Toe syndactyly, Hand polydactyly, Short finger

Head and neck

8

Cleft palate, High palate, Median cleft upper lip

Brain and nerves

8

Brain shrinkage (cerebral atrophy), Depressed nasal ridge, Intellectual disability

Growth and development

5

Short stature, Intrauterine growth retardation, Severe short stature

Muscles

3

Brain shrinkage (cerebral atrophy), Cerebral cortical atrophy, Subcortical cerebral atrophy

Lungs and breathing

3

Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis

Ears

2

Conductive hearing impairment, Abnormality of the ear

Bones and joints

2

Abnormal joint morphology, Joint dislocation

Kidneys and urinary system

2

Renal agenesis, Renal hypoplasia/aplasia

Skin

1

Tongue nodules

Eyes

1

Abnormal eye movements (abnormality of eye movement)

Blood and immune system

1

Recurrent respiratory infections

Digestive system

1

Feeding difficulties

Hormones

1

Primary adrenal insufficiency