A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
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Neu-Laxova syndrome
MONDO:0000179
inborn mitochondrial metabolism disorder
MONDO:0004069
Ehlers-Danlos syndrome, spondylodysplastic type
MONDO:0007526
MGAT2-congenital disorder of glycosylation
MONDO:0008908
ALDH18A1-related de Barsy syndrome
MONDO:0009053
classic homocystinuria
MONDO:0009352