GTR Home > Conditions/Phenotypes > Spastic paraplegia 1

Disease characteristics

Excerpted from the GeneReview: L1 Syndrome
The phenotypic spectrum of L1 syndrome includes X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome (Mental retardation, Aphasia [delayed speech], Spastic paraplegia [shuffling gait], Adducted thumbs), SPG1 (X-linked complicated hereditary spastic paraplegia type 1), and X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50).

Available tests

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Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1, L1CAM
    Summary: L1 cell adhesion molecule

Clinical features

  • Strabismus
  • Hyperreflexia
  • Shuffling gait
  • Short stature
  • Adducted thumb
  • Agenesis of corpus callosum
  • Gait disturbance
  • Talipes equinovarus
  • Intellectual disability
  • Kyphosis
  • Microcephaly
  • Spastic paraplegia
  • Cognitive impairment
  • Hydrocephalus
  • Macrocephaly
  • Pes cavus
  • Ventriculomegaly
  • Neurological speech impairment
  • Aphasia
  • Hyperlordosis
  • Clinodactyly of the 5th finger
  • Hemiplegia/hemiparesis
  • Aplasia/Hypoplasia of the corpus callosum
  • Camptodactyly of finger
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