NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. 21204211 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 20852935 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 15933803 2005