A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Neu-Laxova syndrome
MONDO:0000179
mucopolysaccharidosis type 1
MONDO:0001586
inborn mitochondrial metabolism disorder
MONDO:0004069
Ehlers-Danlos syndrome, spondylodysplastic type
MONDO:0007526
lysosomal acid phosphatase deficiency
MONDO:0008705
MGAT2-congenital disorder of glycosylation
MONDO:0008908