Bones and joints

6

Joint dislocation, Joint hypermobility, Sideways curvature of the spine (scoliosis)

Heart and blood vessels

6

Abnormal heart morphology, Ventricular septal defect, Atrial septal defect

Head and neck

5

Abnormal facial shape, Everted lower lip vermilion, Long face

Eyes

5

Strabismus, Visual impairment, Ptosis

Skin

5

Thickened, rough skin (hyperkeratosis), Eczematoid dermatitis, Hypopigmentation of the skin

Muscles

3

Low muscle tone (hypotonia), Neonatal hypotonia, Damage to the optic nerve (optic atrophy)

Kidneys and urinary system

3

Abnormality of the genitourinary system, Recurrent urinary tract infections, Renal duplication

Ears

2

Hearing loss (hearing impairment), Recurrent otitis media

Arms and legs

2

Positional foot deformity, Prominent fingertip pads

Blood and immune system

2

Recurrent urinary tract infections, Recurrent respiratory infections

Pregnancy and birth

1

Neonatal hypotonia

Nervous system (morphological)

1

Morphological central nervous system abnormality

Growth and development

1

Postnatal growth retardation

Digestive system

1

Feeding difficulties

Hormones

1

Precocious puberty

Lungs and breathing

1

Recurrent respiratory infections