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Items: 2

1.

Adrenomyodystrophy

MedGen UID:
337494
Concept ID:
C1846044
Disease or Syndrome
2.

Deficiency of glycerol kinase

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996). [from OMIM]

MedGen UID:
82803
Concept ID:
C0268418
Disease or Syndrome

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