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White mater abnormalities in the posterior periventricular region

MedGen UID:
Concept ID:
HPO: HP:0006812

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWhite mater abnormalities in the posterior periventricular region

Conditions with this feature

Alpha-N-acetylgalactosaminidase deficiency type 2
MedGen UID:
Concept ID:
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

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