Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 06-02-2009
Symbol NEU1D
Location 6p21.33
Name NEU1 deficiency
Other name(s)
  • cherry-red spot myoclonus syndrome
  • lipomuccopolysaccharidosis
  • mucolipidosis, type I
  • type 1 sialidosis
  • Corresponding gene NEU1
    Other symbol(s) ML1
    Main clinical features
  • associated with skeletal dysplasia (dysostosis multiplex), mental retardation and hepatosplenomegaly
  • onset in infancy, walking difficulties and/or a loss of visual acuity, with a cherry-red spot on the retina and seizures
  • Genetic determination autosomal recessive
    Related entries . including sialidosis, type II, or i.e. dysmorphic early onset severe form . also including a prenatal form with hydrops fetalis
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name neuraminidase (NEU)
    Remark(s)