Table 2.

List of specific disorders included as Leukodystrophy and Genetic Leukoencephalopathy within the CNMC dataset

A. Leukodystrophy	Number of cases	B. Genetic Leukoencephalopathy	Number of cases
Adrenoleukodystrophy	3	Aicardi Goutières syndrome	4
Alexander Disease	6	Congenital Disorder of Glycosylation	1
CACH/Vanishing White Matter disease	1	Fucosidosis	1
Canavan disease	1	GM1/GM2	5
Hypomyelination- unsolved	5	Interstitial deletion of 18q chromosome	1
Krabbe	1	Mitochondrial (MELAS, Kearn Sayre, pyruvate dehydrogenase deficiency, POLG1)	6
Megalencephalic Leukodystrophy with subcortical Cysts	1	MTHFR deficiency	2
Metachromatic leukodystrophy	5	Mucopolysaccharidoses	3
Pelizaeus Merzbacher Disease	6	Neuronal Ceroid Lipofuscinosis	2
Pelizaeus Merzbacher like disease (GJC2)	1	Salla disease	1
Unsolved Leukodystrophy	20	Peroxisomal biogenesis disorder and Neonatal Adrenoleukodystrophy	2
Total	50		28