Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan

Table 2

Main clinical manifestations observed in AKU patients involved in the current study. M: male; F: female.

Patients’ ID (pedigree)	Age of diagnosis (years)	Age and gender of the AKU patient	Dark urine	Main AKU signs and symptoms appeared in the patient
				Ear symptoms			Brown spots in eye sclera	Skin pigmentation	Pigmentation of the teeth	Recurrent renal stones	Ochronotic arthropathy				Morning stiffness and low back pain	Replacement of shoulder joints	Achilles tendon rupture	Foot pain and swelling of interphalangeal joints
				Black ear wax	Bluish discoloration of ear cartilage	Hearing impairments					Spine	Shoulder	Knee	Hip
AKU_AII:3	40	51/M	+	+	+	+	-	-	+	+	+	-	-	+	+	-	-	-
AKU_AII:4	35	46/M	+	+	+	+	-	-	+	+	+	+	-	-	+	-	-	+
AKU_AIII:1	9	18/F	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_BII:2	42	52/F	+	+	-	-	-	-	-	-	+	-	-	-	+	-	-	-
AKU_BII:3	50	60/F	+	+	-	-	-	-	-	-	+	-	-	-	+	-	-	-
AKU_BIII:6	36	41/M	+	+	+	+	+	+	+	+	+	+	-	-	+	-	-	-
AKU_BIV:2	1	9/M	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_BIV:3	4	12/M	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_BIV:4	7	15/M	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_BIV:6	6	11/M	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_BIV:7	4	9/F	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_CII:3	41	44/M	+	+	+	-	-	-	+	-	+	+	+	+	+	-	+	-
AKU_CII:4	34	37/M	+	+	+	-	-	-	+	-	+	+	+	+	+	-	-	+
AKU_CIII:2	6	8/M	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_CIII:3	1	3/M	+	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-
AKU_DII:1	33	43/M	+	+	+	+	-	+	+	+	+	+	+	+	+	+	-	-
AKU_DII:2	25	35/M	+	+	+	+	+	-	+	+	+	-	+	+	+	-	+	-
AKU_DII:3	22	32/M	+	+	+	+	-	-	+	-	+	-	-	+	+	-	-	+