Table 5 Presentations of organ involvements in 13 patients

Heart

 Patent foramen ovale

1

ALG1

 Sick sinus syndrome

1

GNB5

 Atrial septal defect

1

ISPD

 Cardiomyopathy

1

LRPPRC

 Congenital heart disease

1

ZEB2

Liver

 Abnormal liver function

2

BCS1L, GLB1

 Hepatomagly

1

GCDH

Kidney

 Fanconi syndrome

1

BCS1L

Skin/Hair

 Hypopigmentation; sparse hair, twisted and partial breaks

1

ATP7A

 Curly hair, brittle hair

1

BCS1L

 Hypopigmented skin patch, cafe-au-lait spots, white hair

1

SOX10

Bone

 Spine (kyphoscoliosis); tooth(hypomature dental enamel)

1

IDS

 Abnormal shape of skull

1

IDS

Endocrine

 Thyroid hormone abnormality (FT3↑, FT4↓, T4↓)

1

SLC16A2