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Neu-Laxova syndrome
MONDO:0000179
inborn mitochondrial metabolism disorder
MONDO:0004069
Ehlers-Danlos syndrome, spondylodysplastic type
MONDO:0007526
aspartylglucosaminuria
MONDO:0008830
MGAT2-congenital disorder of glycosylation
MONDO:0008908
ALDH18A1-related de Barsy syndrome
MONDO:0009053