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Items: 2

1.

Deficiency of N-acetylglucosamine-1-phosphotransferase

An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure. [from NCI]

MedGen UID:
43809
Concept ID:
C0020725
Disease or Syndrome
2.

Impulse control disorder

Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. [from HPO]

MedGen UID:
5769
Concept ID:
C0021122
Mental or Behavioral Dysfunction

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