Table 2.

Major and minor symptoms of the Bardet-Biedl syndrome, marked for each patient.

Symptoms	Patient ID/ occurrence of the features in patients
Major features	P1	P2	P3	P4	P5	P6	P7	P8
Retinal cone-rod dystrophy	+
Central obesity	+	+	+		+	+		+
Postaxial polydactyly	+	+		+	+	+		+
Cognitive impairment	+		+	+	+	+
Hypogonadism and genitourinary abnormalities1			+		+
Kidney disease	+	+	+	+	+	+	+	+
Minor features
Neurologic abnormalities	+			+				+
Olfactory abnormalities
Oral/dental abnormalities						+		+
Cardiovascular and other thoraco-abdominal abnormalities						+
Gastrointestinal abnormalities				+
Endocrine/metabolic abnormalities2	+

P - patient; 1-8 - numbers of the patients; 1 - in males: cryptorchidism, short scrotum, micropenis, and low testicular volume, suggesting the possibility of infertility1; in women - anatomical anomalies found were hypoplastic or duplex uterus, hypoplastic fallopian tubes and/or ovaries, septate vagina, partial or complete vaginal atresia, absent vaginal and/or urethral orifices, hydrocolpos/hydrometrocolpos, persistent urogenital sinus, and vesicovaginal fistula; 2 - metabolic syndrome, subclinical hypothyroidism, type II diabetes (T2DM), polycystic ovary syndrome.