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Items: 2

1.

Spastic paraplegia 90B, autosomal recessive

Autosomal recessive spastic paraplegia-90B (SPG90B) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss (Srivastava et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). [from OMIM]

MedGen UID:
1841214
Concept ID:
C5830578
Disease or Syndrome
2.

Spastic paraplegia 90A, autosomal dominant

Autosomal dominant spastic paraplegia-90A (SPG90A) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss (Srivastava et al., 2023). For a discussion of genetic heterogeneity of autosomal dominant SPG, see SPG3A (182600). [from OMIM]

MedGen UID:
1841210
Concept ID:
C5830574
Disease or Syndrome

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