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1.

Spastic paraplegia 1

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). [from GeneReviews]

MedGen UID:
162894
Concept ID:
C0795953
Disease or Syndrome
2.

X-linked hydrocephalus 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). [from GeneReviews]

MedGen UID:
75552
Concept ID:
C0265216
Disease or Syndrome

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