Table 2

Patient	1	2	3	4	5	6*	7*	8	Total
Sex	M	F	F	M	M	F	F	M
Age at diagnosis	27 d	7 y	3 y	1 y	1 y	2 y	1 y	9 mo
Present age	---	12 y	9 y	8 y	---	---	1 y	1 y
Age of death	9 mo (?)				2y 9mo.	3y 9mo.			3/8
Developmental delay / MR	-	+	+	+	+	+	+	+	7/8
Hypotonia	-	+	+	+	+	+	+	+	7/8
Abnormal cerebral imaging	cerebellar atrophy + leukoencephalopathy	cerebellar atrophy + stroke	cerebellar atrophy	normal	cerebral atrophy	cerebellar atrophy	na	normal	5/7
Cryptorchidism / Micropenis	+	/	/	+	+	/	/	-	3/4
Elevated transaminases	na	+	+	+	+	-	-	+	5/7
Coagulopathy	na	+	+	+	+	+	+	+	7/7
Remarkable findings	Fetal hydrops		Glaucoma	Acanthosis nigricans				Ascites

*Patients 6 and 7 are siblings; F: female; M: male; d: days; y: years; mo: months; MR: mental retardation; +: present; -: absent; /: data does not apply; na: information not available.

Table 2: Main clinical findings in non-PMM, non-PMI-CDG-I patients.