Table 1.

Comparative characteristics of clinical manifestations in different patients.

Patient	1	2.1	2.2	3	4	5	6.1	6.2	7	8.1	8.2
Age/Sex	18 y. o.	15 y. o.	9 y. o.	7 y. o.	9 months	6 y. o.	1 y. o.	4 y. o.	13 months	4 months	6 months
	Female	Male	Female	Male	Female	Female	Female	Male	Female	Female	Female
Subtype	HPS 1	HPS 1	HPS 1	HPS 1	HPS 1	HPS 1	HPS 6	HPS 6	HPS 6	HPS 9	HPS 9
Obstetric history	Normal full term	Swelling in the third trimester, delivery in the 37th week, cord contusion	Delivery in the 37th week	Delivery at 42 weeks in the head presentation	Normal full term	Normal full term	Normal full term	Normal full term; small for date	Normal full term	Normal full term	Normal full term
Nystagmus	Horizontal	Mean amplitude, horizontal	Mean amplitude, horizontal	Jerky nystagmus	Small amplitude, horizontal	Horizontal	Rotatory	Small amplitude, horizontal	Small amplitude, horizontal	Small amplitude, horizontal	Small amplitude, horizontal
Iris transillumination	1–2 grade	1–2 grade	2–3 grade	3–4 grade	1–2 grade	1–2 grade	1–2 grade	1–2 grade	1–2 grade	2 grade	2 grade
Fovea hypoplasia	2–3 grade	2–3 grade	2–3 grade	Differentiation maintained	1–2 grade	4 grade	1–2 grade	1–2 grade	1–2 grade	1–2 grade	1 grade
Hematological changes *	Tooth extraction and epistaxis	-	Ecchymosis and epistaxis	-	Fecal blood	Epistaxis and ecchymosis	-	Ecchymosis, epistaxis	-	Ecchymosis and bleeding from minor wounds	Ecchymosis and bleeding from minor wounds
ISTH-SSC Bleeding Assessment Tool score [11]	3	0	2	0	2	2	0	2	0	2	2
Light skin and eyes *	+	+	+	+	+	+	+	+	+	+	+
Hair, eyebrows and eyelashes color	White	White	White	White	White	White	White	White	Blond	White	White
Pulmonary changes *	Decreased pO2	-	Episodes of obstructive bronchitis	-	-	-	-	-	-	-	-

* Note: (+) means presence of the clinical symptom and (-) means absence of clinical symptom.