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Items: 3

1.

Distal spinal muscular atrophy, X-linked 3

MedGen UID:
335168
Concept ID:
C1845359
Disease or Syndrome
2.

Cutis laxa, X-linked

Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995). [from GTR]

MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
3.

Menkes kinky-hair syndrome

Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Menkes disease. [from GTR]

MedGen UID:
44030
Concept ID:
C0022716
Disease or Syndrome
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